ClinVar for Gene (Select 5097) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3414685	NM_032420.5(PCDH1):c.986T>C (p.Leu329Pro)	PCDH1 (L345P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3414684	NM_032420.5(PCDH1):c.3365G>C (p.Arg1122Pro)	PCDH1 (R1122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414683	NM_032420.5(PCDH1):c.3431G>A (p.Arg1144Gln)	PCDH1 (R1144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414682	NM_032420.5(PCDH1):c.1495G>A (p.Val499Ile)	PCDH1 (V515I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414681	NM_032420.5(PCDH1):c.2826G>C (p.Met942Ile)	PCDH1 (M942I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414680	NM_032420.5(PCDH1):c.2365C>T (p.Arg789Cys)	PCDH1 (R789C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414679	NM_032420.5(PCDH1):c.2612C>T (p.Ala871Val)	PCDH1 (A492V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414678	NM_032420.5(PCDH1):c.14C>T (p.Ala5Val)	PCDH1 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414677	NM_032420.5(PCDH1):c.1103G>A (p.Ser368Asn)	PCDH1 (S384N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3414676	NM_032420.5(PCDH1):c.2495C>T (p.Thr832Met)	PCDH1 (T832M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414675	NM_032420.5(PCDH1):c.3523C>G (p.Pro1175Ala)	PCDH1 (P1175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414674	NM_032420.5(PCDH1):c.3377A>C (p.Glu1126Ala)	PCDH1 (E1126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3414673	NM_032420.5(PCDH1):c.2533G>A (p.Glu845Lys)	PCDH1 (E845K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304550	NM_032420.5(PCDH1):c.1811A>C (p.Asp604Ala)	PCDH1 (D225A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304549	NM_032420.5(PCDH1):c.3524C>T (p.Pro1175Leu)	PCDH1 (P1175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304548	NM_032420.5(PCDH1):c.2341G>C (p.Glu781Gln)	PCDH1 (E402Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304547	NM_032420.5(PCDH1):c.2069G>C (p.Gly690Ala)	PCDH1 (G311A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304546	NM_032420.5(PCDH1):c.2690A>G (p.Tyr897Cys)	PCDH1 (Y897C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304545	NM_032420.5(PCDH1):c.3655T>G (p.Phe1219Val)	PCDH1 (F1219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304544	NM_032420.5(PCDH1):c.253G>C (p.Asp85His)	PCDH1 (D101H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304543	NM_032420.5(PCDH1):c.1103G>T (p.Ser368Ile)	PCDH1 (S384I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304542	NM_032420.5(PCDH1):c.194C>T (p.Pro65Leu)	PCDH1 (P81L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209104	NM_032420.5(PCDH1):c.974T>G (p.Val325Gly)	PCDH1 (V325G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209103	NM_032420.5(PCDH1):c.965C>T (p.Ala322Val)	PCDH1 (A322V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209102	NM_032420.5(PCDH1):c.95C>A (p.Pro32His)	PCDH1 (P32H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209101	NM_032420.5(PCDH1):c.904G>A (p.Val302Met)	PCDH1 (V318M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209100	NM_032420.5(PCDH1):c.876T>G (p.Asn292Lys)	PCDH1 (N292K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209099	NM_032420.5(PCDH1):c.710A>C (p.Asn237Thr)	PCDH1 (N253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209098	NM_032420.5(PCDH1):c.569C>T (p.Pro190Leu)	PCDH1 (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209097	NM_032420.5(PCDH1):c.481A>G (p.Ile161Val)	PCDH1 (I177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209096	NM_032420.5(PCDH1):c.390T>A (p.Asp130Glu)	PCDH1 (D146E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209095	NM_032420.5(PCDH1):c.3646A>G (p.Thr1216Ala)	PCDH1 (T1216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209093	NM_032420.5(PCDH1):c.3080C>T (p.Pro1027Leu)	PCDH1 (P1027L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209092	NM_032420.5(PCDH1):c.2560C>T (p.Leu854Phe)	PCDH1 (L475F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209090	NM_032420.5(PCDH1):c.2204C>T (p.Thr735Met)	PCDH1 (T356M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209089	NM_032420.5(PCDH1):c.1944G>C (p.Gln648His)	PCDH1 (Q269H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209088	NM_032420.5(PCDH1):c.1942C>A (p.Gln648Lys)	PCDH1 (Q269K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209087	NM_032420.5(PCDH1):c.1736A>C (p.Glu579Ala)	PCDH1 (E595A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209085	NM_032420.5(PCDH1):c.1220A>G (p.Asp407Gly)	PCDH1 (D423G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209084	NM_032420.5(PCDH1):c.10G>T (p.Gly4Trp)	PCDH1 (G4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615382	NM_032420.5(PCDH1):c.3266A>G (p.Tyr1089Cys)	PCDH1 (Y1089C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602552	NM_032420.5(PCDH1):c.107G>A (p.Arg36Gln)	PCDH1 (R52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592849	NM_032420.5(PCDH1):c.1537G>T (p.Val513Phe)	PCDH1 (V529F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561933	NM_032420.5(PCDH1):c.2398C>A (p.Pro800Thr)	PCDH1 (P421T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555076	NM_032420.5(PCDH1):c.2442G>T (p.Glu814Asp)	PCDH1 (E814D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553704	NM_032420.5(PCDH1):c.1192C>A (p.Gln398Lys)	PCDH1 (Q398K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542540	NM_032420.5(PCDH1):c.1877C>T (p.Pro626Leu)	PCDH1 (P247L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537108	NM_032420.5(PCDH1):c.1111G>T (p.Ala371Ser)	PCDH1 (A371S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536899	NM_032420.5(PCDH1):c.1489G>A (p.Val497Met)	PCDH1 (V497M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532893	NM_032420.5(PCDH1):c.361C>T (p.Arg121Cys)	PCDH1 (R121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512330	NM_032420.5(PCDH1):c.3533G>A (p.Arg1178Gln)	PCDH1 (R1178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492757	NM_032420.5(PCDH1):c.3431G>T (p.Arg1144Leu)	PCDH1 (R1144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479553	NM_032420.5(PCDH1):c.2455C>T (p.Arg819Cys)	PCDH1 (R819C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471685	NM_032420.5(PCDH1):c.3689C>T (p.Thr1230Met)	PCDH1 (T1230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459939	NM_032420.5(PCDH1):c.2398C>T (p.Pro800Ser)	PCDH1 (P800S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456026	NM_032420.5(PCDH1):c.106C>T (p.Arg36Trp)	PCDH1 (R36W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408985	NM_032420.5(PCDH1):c.3543A>C (p.Lys1181Asn)	PCDH1 (K1181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397466	NM_032420.5(PCDH1):c.829G>A (p.Ala277Thr)	PCDH1 (A277T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394475	NM_032420.5(PCDH1):c.1555A>G (p.Asn519Asp)	PCDH1 (N140D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388238	NM_032420.5(PCDH1):c.1046A>G (p.Asp349Gly)	PCDH1 (D365G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385349	NM_032420.5(PCDH1):c.1703C>T (p.Thr568Ile)	PCDH1 (T568I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376922	NM_032420.5(PCDH1):c.8G>A (p.Ser3Asn)	PCDH1 (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365678	NM_032420.5(PCDH1):c.3524C>G (p.Pro1175Arg)	PCDH1 (P1175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364892	NM_032420.5(PCDH1):c.10G>A (p.Gly4Arg)	PCDH1 (G4R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350317	NM_032420.5(PCDH1):c.1728G>C (p.Glu576Asp)	PCDH1 (E592D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347464	NM_032420.5(PCDH1):c.1085G>A (p.Arg362Gln)	PCDH1 (R378Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344236	NM_032420.5(PCDH1):c.232G>A (p.Ala78Thr)	PCDH1 (A78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338901	NM_032420.5(PCDH1):c.307G>T (p.Gly103Cys)	PCDH1 (G103C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335296	NM_032420.5(PCDH1):c.3047A>T (p.Gln1016Leu)	PCDH1 (Q1032L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327464	NM_032420.5(PCDH1):c.2087C>T (p.Ser696Leu)	PCDH1 (S712L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324676	NM_032420.5(PCDH1):c.3309C>A (p.His1103Gln)	PCDH1 (H1103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302395	NM_032420.5(PCDH1):c.256G>A (p.Val86Met)	PCDH1 (V102M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287552	NM_032420.5(PCDH1):c.3545C>T (p.Thr1182Met)	PCDH1 (T1182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281408	NM_032420.5(PCDH1):c.800G>A (p.Arg267His)	PCDH1 (R267H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281140	NM_032420.5(PCDH1):c.963G>C (p.Gln321His)	PCDH1 (Q321H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272370	NM_032420.5(PCDH1):c.985C>T (p.Leu329Phe)	PCDH1 (L345F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265663	NM_032420.5(PCDH1):c.1561C>G (p.Pro521Ala)	PCDH1 (P142A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256725	NM_032420.5(PCDH1):c.799C>A (p.Arg267Ser)	PCDH1 (R283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251789	NM_032420.5(PCDH1):c.3508G>A (p.Gly1170Ser)	PCDH1 (G1170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246143	NM_032420.5(PCDH1):c.1312G>A (p.Val438Met)	PCDH1 (V454M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240724	NM_032420.5(PCDH1):c.1117G>A (p.Val373Met)	PCDH1 (V373M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238593	NM_032420.5(PCDH1):c.1129G>A (p.Val377Met)	PCDH1 (V393M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227204	NM_032420.5(PCDH1):c.2390G>A (p.Arg797His)	PCDH1 (R418H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218965	NM_032420.5(PCDH1):c.1646C>T (p.Pro549Leu)	PCDH1 (P170L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916566	NM_032420.5(PCDH1):c.353A>G (p.Glu118Gly)	PCDH1 (E118G +1 more)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 787045	NM_032420.5(PCDH1):c.3350C>T (p.Thr1117Ile)	PCDH1 (T1117I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779244	NM_032420.5(PCDH1):c.43C>T (p.Leu15Phe)	PCDH1 (L15F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776073	NM_032420.5(PCDH1):c.1803T>G (p.Asn601Lys)	PCDH1 (N617K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic

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