CRACD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992520, LOC129992521 +1410 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	AMBN, AMTN +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 146177	GRCh38/hg38 4q12(chr4:55831692-56248102)x3	CEP135, CRACD +8 more	Copy number gain	See cases	GUncertain significance
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2558143	NM_001393381.1(CRACD):c.7A>G (p.Thr3Ala)	CRACD (T3A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077079	NM_001393381.1(CRACD):c.10C>G (p.Arg4Gly)	CRACD (R4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077082	NM_001393381.1(CRACD):c.11G>A (p.Arg4Gln)	CRACD (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077135	NM_001393381.1(CRACD):c.58A>G (p.Ser20Gly)	CRACD (S20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077080	NM_001393381.1(CRACD):c.110A>G (p.Lys37Arg)	CRACD (K37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077088	NM_001393381.1(CRACD):c.155G>A (p.Arg52Gln)	CRACD (R52Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077095	NM_001393381.1(CRACD):c.184G>A (p.Ala62Thr)	CRACD (A4T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077104	NM_001393381.1(CRACD):c.259A>G (p.Ile87Val)	CRACD (I87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077113	NM_001393381.1(CRACD):c.280A>G (p.Asn94Asp)	CRACD (N36D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077117	NM_001393381.1(CRACD):c.296C>T (p.Thr99Met)	CRACD, LOC126807059 (T99M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077129	NM_001393381.1(CRACD):c.376C>T (p.Arg126Trp)	CRACD (R126W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077130	NM_001393381.1(CRACD):c.395C>T (p.Ser132Phe)	CRACD (S74F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077131	NM_001393381.1(CRACD):c.451C>T (p.Arg151Cys)	CRACD (R151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077132	NM_001393381.1(CRACD):c.452G>A (p.Arg151His)	CRACD (R93H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532551	NM_001393381.1(CRACD):c.514A>G (p.Lys172Glu)	CRACD (K114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538050	NM_001393381.1(CRACD):c.553C>G (p.Gln185Glu)	CRACD (Q127E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077134	NM_001393381.1(CRACD):c.585C>A (p.Asp195Glu)	CRACD (D137E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077136	NM_001393381.1(CRACD):c.604G>A (p.Glu202Lys)	CRACD (E202K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594197	NM_001393381.1(CRACD):c.673G>C (p.Glu225Gln)	CRACD (E225Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077137	NM_001393381.1(CRACD):c.794G>A (p.Arg265Lys)	CRACD (R207K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077138	NM_001393381.1(CRACD):c.806T>G (p.Leu269Arg)	CRACD (L211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077139	NM_001393381.1(CRACD):c.811G>C (p.Glu271Gln)	CRACD (E271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487403	NM_001393381.1(CRACD):c.848C>T (p.Ala283Val)	CRACD (A225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614762	NM_001393381.1(CRACD):c.863G>C (p.Arg288Pro)	CRACD (R230P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077140	NM_001393381.1(CRACD):c.907G>A (p.Ala303Thr)	CRACD (A303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077141	NM_001393381.1(CRACD):c.914G>C (p.Arg305Pro)	CRACD (R247P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620972	NM_001393381.1(CRACD):c.929A>C (p.Glu310Ala)	CRACD (E252A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455085	NM_001393381.1(CRACD):c.971A>G (p.Gln324Arg)	CRACD (Q324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077142	NM_001393381.1(CRACD):c.979G>T (p.Ala327Ser)	CRACD (A269S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598177	NM_001393381.1(CRACD):c.1007A>C (p.Glu336Ala)	CRACD (E336A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496799	NM_001393381.1(CRACD):c.1020G>T (p.Arg340Ser)	CRACD (R282S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471845	NM_001393381.1(CRACD):c.1025A>G (p.Glu342Gly)	CRACD (E342G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496812	NM_001393381.1(CRACD):c.1064C>T (p.Ala355Val)	CRACD (A297V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496801	NM_001393381.1(CRACD):c.1082A>G (p.Gln361Arg)	CRACD (Q361R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496817	NM_001393381.1(CRACD):c.1103G>A (p.Gly368Glu)	CRACD (G310E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496809	NM_001393381.1(CRACD):c.1126G>A (p.Glu376Lys)	CRACD (E376K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077081	NM_001393381.1(CRACD):c.1130C>T (p.Ala377Val)	CRACD (A377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496804	NM_001393381.1(CRACD):c.1153G>T (p.Ala385Ser)	CRACD (A385S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496805	NM_001393381.1(CRACD):c.1154C>T (p.Ala385Val)	CRACD (A327V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077083	NM_001393381.1(CRACD):c.1202T>C (p.Leu401Pro)	CRACD (L343P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077084	NM_001393381.1(CRACD):c.1223G>A (p.Gly408Asp)	CRACD (G408D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077085	NM_001393381.1(CRACD):c.1237G>C (p.Glu413Gln)	CRACD (E413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269377	NM_001393381.1(CRACD):c.1303C>T (p.Arg435Cys)	CRACD (R377C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077086	NM_001393381.1(CRACD):c.1304G>C (p.Arg435Pro)	CRACD (R435P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496803	NM_001393381.1(CRACD):c.1322A>G (p.Gln441Arg)	CRACD (Q383R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077087	NM_001393381.1(CRACD):c.1336G>C (p.Glu446Gln)	CRACD (E388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077089	NM_001393381.1(CRACD):c.1577A>T (p.Glu526Val)	CRACD (E468V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269378	NM_001393381.1(CRACD):c.1641G>C (p.Gln547His)	CRACD (Q489H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077090	NM_001393381.1(CRACD):c.1681G>A (p.Ala561Thr)	CRACD (A561T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077091	NM_001393381.1(CRACD):c.1712A>G (p.Gln571Arg)	CRACD (Q571R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077092	NM_001393381.1(CRACD):c.1736G>A (p.Ser579Asn)	CRACD (S521N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496816	NM_001393381.1(CRACD):c.1802C>G (p.Ala601Gly)	CRACD (A543G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077093	NM_001393381.1(CRACD):c.1805A>C (p.Gln602Pro)	CRACD (Q544P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077094	NM_001393381.1(CRACD):c.1807C>T (p.Leu603Phe)	CRACD (L603F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495174	NM_001393381.1(CRACD):c.1816C>G (p.Pro606Ala)	CRACD (P606A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077096	NM_001393381.1(CRACD):c.1871T>C (p.Leu624Ser)	CRACD (L566S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077097	NM_001393381.1(CRACD):c.1948G>A (p.Gly650Arg)	CRACD (G650R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077098	NM_001393381.1(CRACD):c.1961C>G (p.Pro654Arg)	CRACD (P654R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496815	NM_001393381.1(CRACD):c.1973C>A (p.Ser658Tyr)	CRACD (S600Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077099	NM_001393381.1(CRACD):c.2038G>A (p.Glu680Lys)	CRACD (E622K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077100	NM_001393381.1(CRACD):c.2064G>C (p.Arg688Ser)	CRACD (R630S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077101	NM_001393381.1(CRACD):c.2081G>A (p.Gly694Asp)	CRACD (G636D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463045	NM_001393381.1(CRACD):c.2105G>A (p.Arg702Gln)	CRACD (R644Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531898	NM_001393381.1(CRACD):c.2250G>T (p.Met750Ile)	CRACD (M692I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269379	NM_001393381.1(CRACD):c.2257C>T (p.Pro753Ser)	CRACD (P695S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077102	NM_001393381.1(CRACD):c.2293G>A (p.Gly765Ser)	CRACD (G707S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077103	NM_001393381.1(CRACD):c.2393T>G (p.Phe798Cys)	CRACD (F740C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269380	NM_001393381.1(CRACD):c.2445G>T (p.Glu815Asp)	CRACD (E757D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543890	NM_001393381.1(CRACD):c.2461G>C (p.Asp821His)	CRACD (D821H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496810	NM_001393381.1(CRACD):c.2623A>G (p.Thr875Ala)	CRACD (T875A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496800	NM_001393381.1(CRACD):c.2626G>A (p.Gly876Arg)	CRACD (G876R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496814	NM_001393381.1(CRACD):c.2627G>A (p.Gly876Glu)	CRACD (G876E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077105	NM_001393381.1(CRACD):c.2648C>A (p.Pro883Gln)	CRACD (P883Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496798	NM_001393381.1(CRACD):c.2663G>T (p.Ser888Ile)	CRACD (S830I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077106	NM_001393381.1(CRACD):c.2668C>G (p.Arg890Gly)	CRACD (R832G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496806	NM_001393381.1(CRACD):c.2680G>A (p.Glu894Lys)	CRACD (E836K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077107	NM_001393381.1(CRACD):c.2680G>C (p.Glu894Gln)	CRACD (E894Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077109	NM_001393381.1(CRACD):c.2689G>C (p.Gly897Arg)	CRACD (G897R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077110	NM_001393381.1(CRACD):c.2708G>A (p.Gly903Asp)	CRACD (G903D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077111	NM_001393381.1(CRACD):c.2775C>A (p.Ser925Arg)	CRACD (S925R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077112	NM_001393381.1(CRACD):c.2780G>T (p.Arg927Leu)	CRACD (R927L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269375	NM_001393381.1(CRACD):c.2804G>A (p.Gly935Glu)	CRACD (G935E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269376	NM_001393381.1(CRACD):c.2831C>T (p.Pro944Leu)	CRACD (P944L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459165	NM_001393381.1(CRACD):c.2837C>T (p.Pro946Leu)	CRACD (P888L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077114	NM_001393381.1(CRACD):c.2852C>T (p.Ala951Val)	CRACD (A893V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077115	NM_001393381.1(CRACD):c.2870T>A (p.Leu957Gln)	CRACD (L957Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472628	NM_001393381.1(CRACD):c.2891C>T (p.Ala964Val)	CRACD (A964V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077116	NM_001393381.1(CRACD):c.2923T>C (p.Ser975Pro)	CRACD (S917P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548617	NM_001393381.1(CRACD):c.2947C>A (p.Pro983Thr)	CRACD (P925T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496811	NM_001393381.1(CRACD):c.2987C>A (p.Pro996Gln)	CRACD (P996Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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