CRHR2[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 780674	NM_001883.5(CRHR2):c.1231G>A (p.Val411Met)	CRHR2 (V397M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3077423	NM_001883.5(CRHR2):c.1223C>T (p.Thr408Met)	CRHR2 (T435M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3497055	NM_001883.5(CRHR2):c.1195C>T (p.Arg399Trp)	CRHR2 (R399W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301722	NM_001883.5(CRHR2):c.1180C>T (p.Pro394Ser)	CRHR2 (P393S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269503	NM_001883.5(CRHR2):c.1134G>T (p.Gln378His)	CRHR2 (Q378H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077422	NM_001883.5(CRHR2):c.1099C>T (p.Arg367Cys)	CRHR2 (R367C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610342	NM_001883.5(CRHR2):c.1030A>G (p.Asn344Asp)	CRHR2, LOC126859981 (N371D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251868	NM_001883.5(CRHR2):c.1011G>C (p.Gln337His)	CRHR2, LOC126859981 (Q336H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269504	NM_001883.5(CRHR2):c.978C>A (p.Phe326Leu)	CRHR2, LOC126859981 (F353L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383249	NM_001883.5(CRHR2):c.971T>C (p.Met324Thr)	CRHR2, LOC126859981 (M351T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726063	NM_001883.5(CRHR2):c.920A>G (p.Lys307Arg)	CRHR2, LOC126859981 (K293R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 91937	NM_001883.5(CRHR2):c.915C>T (p.Tyr305=)	CRHR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2220472	NM_001883.5(CRHR2):c.904A>G (p.Thr302Ala)	CRHR2 (T301A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355538	NM_001883.5(CRHR2):c.890C>T (p.Ser297Phe)	CRHR2 (S283F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597754	NM_001883.5(CRHR2):c.883C>T (p.Arg295Cys)	CRHR2 (R281C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736865	NM_001883.5(CRHR2):c.832-5T>A	CRHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3077427	NM_001883.5(CRHR2):c.786C>G (p.Asp262Glu)	CRHR2 (D262E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511806	NM_001883.5(CRHR2):c.784G>A (p.Asp262Asn)	CRHR2 (D289N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497059	NM_001883.5(CRHR2):c.781G>A (p.Gly261Ser)	CRHR2 (G247S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269505	NM_001883.5(CRHR2):c.753T>G (p.Asn251Lys)	CRHR2 (N237K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077426	NM_001883.5(CRHR2):c.743A>G (p.Tyr248Cys)	CRHR2 (Y248C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315857	NM_001883.5(CRHR2):c.709C>T (p.Pro237Ser)	CRHR2 (P223S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524015	NM_001883.5(CRHR2):c.698G>A (p.Cys233Tyr)	CRHR2 (C232Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264227	NM_001883.5(CRHR2):c.662G>A (p.Arg221His)	CRHR2 (R207H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289996	NM_001883.5(CRHR2):c.661C>T (p.Arg221Cys)	CRHR2 (R220C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497057	NM_001883.5(CRHR2):c.632C>T (p.Thr211Met)	CRHR2 (T197M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269502	NM_001883.5(CRHR2):c.583G>A (p.Val195Met)	CRHR2 (V195M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249581	NM_001883.5(CRHR2):c.580T>A (p.Phe194Ile)	CRHR2 (F180I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234652	NM_001883.5(CRHR2):c.577T>A (p.Tyr193Asn)	CRHR2 (Y179N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497054	NM_001883.5(CRHR2):c.442C>T (p.Arg148Trp)	CRHR2 (R134W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497061	NM_001883.5(CRHR2):c.424C>T (p.Arg142Trp)	CRHR2 (R128W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077425	NM_001883.5(CRHR2):c.414C>A (p.Phe138Leu)	CRHR2 (F124L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597682	NM_001883.5(CRHR2):c.343A>G (p.Ile115Val)	CRHR2 (I114V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312363	NM_001883.5(CRHR2):c.337T>C (p.Tyr113His)	CRHR2 (Y140H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369484	NM_001883.5(CRHR2):c.197A>C (p.Glu66Ala)	CRHR2 (E66A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549494	NM_001883.5(CRHR2):c.196G>A (p.Glu66Lys)	CRHR2 (E52K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497058	NM_001883.5(CRHR2):c.191G>T (p.Cys64Phe)	CRHR2 (C64F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497062	NM_001883.5(CRHR2):c.150C>G (p.Cys50Trp)	CRHR2 (C36W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497056	NM_001883.5(CRHR2):c.143G>C (p.Gly48Ala)	CRHR2 (G34A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241603	NM_001202475.1(CRHR2):c.108G>C (p.Gln36His)	CRHR2 (Q36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778299	NM_001202475.1(CRHR2):c.96C>T (p.Ala32=)	CRHR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3245829	NC_000007.13:g.(?_30054351)_(30963244_?)del	AQP1, CRHR2 +9 more	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062970	GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1809067	GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3	ADCYAP1R1, AQP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1680631	NC_000007.13:g.(?_30655492)_(31018859_?)dup	AQP1, CRHR2 +4 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1527346	GRCh37/hg19 7p14.3(chr7:30404217-30782235)	CRHR2, GARS1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1401428	NC_000007.13:g.(?_30054351)_(31018859_?)dup	AQP1, CRHR2 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	GUncertain significance
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 814952	GRCh37/hg19 7p14.3(chr7:30502942-30888964)x1	GARS1, CRHR2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687359	GRCh37/hg19 7p14.3(chr7:30688444-30814670)x1	CRHR2, INMT +1 more	Copy number loss	not provided	GUncertain significance
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 393728	GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	SNORA5C, SNX10 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 75