ClinVar for Gene (Select 222171) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 2594874	NM_175887.3(PRR15):c.196G>C (p.Gly66Arg)	PRR15 (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592595	NM_175887.3(PRR15):c.215C>G (p.Pro72Arg)	PRR15 (P72R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568695	NM_175887.3(PRR15):c.91G>T (p.Val31Leu)	PRR15 (V31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548139	NM_175887.3(PRR15):c.313G>C (p.Ala105Pro)	PRR15 (A105P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520074	NM_175887.3(PRR15):c.7G>A (p.Asp3Asn)	PRR15 (D3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478378	NM_175887.3(PRR15):c.286C>T (p.Arg96Cys)	PRR15 (R96C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273678	NM_175887.3(PRR15):c.375C>G (p.His125Gln)	PRR15 (H125Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2259959	NM_175887.3(PRR15):c.113C>A (p.Ala38Asp)	PRR15 (A38D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223838	NM_175887.3(PRR15):c.89G>A (p.Gly30Glu)	PRR15 (G30E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +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 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	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 152714	GRCh38/hg38 7p14.3(chr7:29030620-29796236)x1	CHN2, CHN2-AS1 +13 more	Copy number loss	See cases	GUncertain significance
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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35