18116[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2493216	NM_006559.3(KHDRBS1):c.38G>C (p.Arg13Pro)	KHDRBS1 (R13P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512845	NM_006559.3(KHDRBS1):c.44C>T (p.Ser15Leu)	KHDRBS1 (S15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372625	NM_006559.3(KHDRBS1):c.58T>C (p.Ser20Pro)	KHDRBS1 (S20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113998	NM_006559.3(KHDRBS1):c.113C>T (p.Pro38Leu)	KHDRBS1 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373203	NM_006559.3(KHDRBS1):c.164C>T (p.Ala55Val)	KHDRBS1 (A55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113999	NM_006559.3(KHDRBS1):c.223G>C (p.Asp75His)	KHDRBS1 (D75H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114000	NM_006559.3(KHDRBS1):c.242C>T (p.Pro81Leu)	KHDRBS1 (P81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528167	NM_006559.3(KHDRBS1):c.300G>T (p.Glu100Asp)	KHDRBS1 (E100D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287974	NM_006559.3(KHDRBS1):c.313C>T (p.Pro105Ser)	KHDRBS1 (P105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288029	NM_006559.3(KHDRBS1):c.361G>A (p.Ala121Thr)	KHDRBS1 (A121T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337156	NM_006559.3(KHDRBS1):c.832C>T (p.Pro278Ser)	KHDRBS1 (P239S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602322	NM_006559.3(KHDRBS1):c.946G>A (p.Gly316Ser)	KHDRBS1 (G316S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536962	NM_006559.3(KHDRBS1):c.1024G>A (p.Ala342Thr)	KHDRBS1 (A303T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304295	NM_006559.3(KHDRBS1):c.1027C>T (p.Pro343Ser)	KHDRBS1 (P343S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336950	NM_006559.3(KHDRBS1):c.1144G>C (p.Gly382Arg)	KHDRBS1 (G343R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522385	NM_006559.3(KHDRBS1):c.1243G>A (p.Asp415Asn)	KHDRBS1 (D376N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929733	NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu)	KHDRBS1 (P382L +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 1526651	GRCh37/hg19 1p35.1(chr1:32462251-32721488)	TMEM234, TMEM39B +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 31