ClinVar for Gene (Select 57648) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685410	GRCh37/hg19 1p35.1(chr1:33099109-33528691)x1	HPCA, AK2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638612	NM_020888.3(NHSL3):c.2652G>C (p.Leu884=)	NHSL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638611	NM_020888.3(NHSL3):c.1703G>A (p.Arg568Gln)	NHSL3 (R509Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2569695	NM_020888.3(NHSL3):c.146A>C (p.Lys49Thr)	NHSL3 (K49T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569694	NM_020888.3(NHSL3):c.145A>G (p.Lys49Glu)	NHSL3 (K49E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568888	NM_020888.3(NHSL3):c.1219C>T (p.Arg407Cys)	NHSL3 (R348C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557191	NM_020888.3(NHSL3):c.1345A>C (p.Asn449His)	NHSL3 (N390H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555335	NM_020888.3(NHSL3):c.469C>T (p.Arg157Trp)	NHSL3 (R109W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524629	NM_020888.3(NHSL3):c.1876G>A (p.Val626Ile)	NHSL3 (V578I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524438	NM_020888.3(NHSL3):c.65C>A (p.Pro22Gln)	NHSL3 (P22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520724	NM_020888.3(NHSL3):c.3068C>A (p.Pro1023Gln)	NHSL3 (P975Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515211	NM_020888.3(NHSL3):c.3079C>T (p.Arg1027Cys)	NHSL3 (R979C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514266	NM_020888.3(NHSL3):c.1396G>A (p.Gly466Arg)	NHSL3 (G466R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510994	NM_020888.3(NHSL3):c.2693C>T (p.Ala898Val)	NHSL3 (A850V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509495	NM_020888.3(NHSL3):c.137G>T (p.Arg46Leu)	NHSL3 (R46L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490239	NM_020888.3(NHSL3):c.2683C>T (p.Pro895Ser)	NHSL3 (P836S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488314	NM_020888.3(NHSL3):c.562C>A (p.Arg188Ser)	NHSL3 (R140S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485488	NM_020888.3(NHSL3):c.2480T>A (p.Ile827Asn)	NHSL3 (I779N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484330	NM_020888.3(NHSL3):c.2377G>A (p.Ala793Thr)	NHSL3 (A734T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477378	NM_020888.3(NHSL3):c.2756G>C (p.Arg919Pro)	NHSL3 (R860P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473193	NM_020888.3(NHSL3):c.1712C>A (p.Pro571Gln)	NHSL3 (P523Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400964	NM_020888.3(NHSL3):c.2318C>A (p.Pro773Gln)	NHSL3 (P725Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393192	NM_020888.3(NHSL3):c.1325C>T (p.Pro442Leu)	NHSL3 (P394L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390837	NM_020888.3(NHSL3):c.2546C>G (p.Pro849Arg)	NHSL3 (P790R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384437	NM_020888.3(NHSL3):c.901C>T (p.Arg301Trp)	NHSL3 (R301W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382147	NM_020888.3(NHSL3):c.2708T>C (p.Leu903Pro)	NHSL3 (L844P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379789	NM_020888.3(NHSL3):c.196G>T (p.Ala66Ser)	NHSL3 (A66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370016	NM_020888.3(NHSL3):c.893G>A (p.Arg298His)	NHSL3 (R239H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367069	NM_020888.3(NHSL3):c.503G>A (p.Cys168Tyr)	NHSL3 (C109Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351306	NM_020888.3(NHSL3):c.2566C>T (p.Pro856Ser)	NHSL3 (P797S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349548	NM_020888.3(NHSL3):c.2489C>G (p.Pro830Arg)	NHSL3 (P830R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343543	NM_020888.3(NHSL3):c.760G>A (p.Val254Ile)	NHSL3 (V206I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333774	NM_020888.3(NHSL3):c.2798C>G (p.Ala933Gly)	NHSL3 (A885G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323091	NM_020888.3(NHSL3):c.2656A>G (p.Met886Val)	NHSL3 (M886V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321087	NM_020888.3(NHSL3):c.2620G>A (p.Val874Ile)	NHSL3 (V815I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299025	NM_020888.3(NHSL3):c.1321C>G (p.Gln441Glu)	NHSL3 (Q382E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297390	NM_020888.3(NHSL3):c.931G>A (p.Gly311Ser)	NHSL3 (G263S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290560	NM_020888.3(NHSL3):c.550G>A (p.Ala184Thr)	NHSL3 (A125T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267929	NM_020888.3(NHSL3):c.16C>T (p.Pro6Ser)	NHSL3 (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264434	NM_020888.3(NHSL3):c.2717C>T (p.Ser906Leu)	NHSL3 (S847L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2263815	NM_020888.3(NHSL3):c.1595A>C (p.Gln532Pro)	NHSL3 (Q473P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262245	NM_020888.3(NHSL3):c.2366C>T (p.Pro789Leu)	NHSL3 (P741L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261604	NM_020888.3(NHSL3):c.1195G>A (p.Val399Ile)	NHSL3 (V351I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256455	NM_020888.3(NHSL3):c.1238G>A (p.Ser413Asn)	NHSL3 (S413N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247582	NM_020888.3(NHSL3):c.349C>G (p.His117Asp)	NHSL3 (H117D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247115	NM_020888.3(NHSL3):c.1805C>A (p.Pro602His)	NHSL3 (P602H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244028	NM_020888.3(NHSL3):c.1807G>C (p.Ala603Pro)	NHSL3 (A544P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242795	NM_020888.3(NHSL3):c.1981C>T (p.Pro661Ser)	NHSL3 (P602S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239702	NM_020888.3(NHSL3):c.431G>A (p.Gly144Asp)	NHSL3 (G85D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221788	NM_020888.3(NHSL3):c.2606C>T (p.Pro869Leu)	NHSL3 (P810L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214555	NM_020888.3(NHSL3):c.371A>G (p.Gln124Arg)	NHSL3 (Q76R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211525	NM_020888.3(NHSL3):c.1498C>G (p.Pro500Ala)	NHSL3 (P441A +2 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205295	NM_020888.3(NHSL3):c.763C>T (p.Arg255Cys)	NHSL3 (R207C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204699	NM_020888.3(NHSL3):c.1691C>T (p.Pro564Leu)	NHSL3 (P564L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204623	NM_020888.3(NHSL3):c.2803C>G (p.Arg935Gly)	NHSL3 (R887G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 773394	NM_020888.3(NHSL3):c.587-5C>A	NHSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68