ClinVar for Gene (Select 57648) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299688	NM_020888.3(NHSL3):c.2059C>G (p.Leu687Val)	NHSL3 (L687V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299687	NM_020888.3(NHSL3):c.3238G>C (p.Glu1080Gln)	NHSL3 (E1032Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299686	NM_020888.3(NHSL3):c.1364C>A (p.Pro455His)	NHSL3 (P396H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299683	NM_020888.3(NHSL3):c.457A>G (p.Ile153Val)	NHSL3 (I153V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299682	NM_020888.3(NHSL3):c.2571G>T (p.Gln857His)	NHSL3 (Q798H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299681	NM_020888.3(NHSL3):c.2959G>A (p.Val987Met)	NHSL3 (V987M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3299680	NM_020888.3(NHSL3):c.1019C>T (p.Pro340Leu)	NHSL3 (P292L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299679	NM_020888.3(NHSL3):c.737G>C (p.Arg246Pro)	NHSL3 (R198P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299678	NM_020888.3(NHSL3):c.3124C>T (p.Pro1042Ser)	NHSL3 (P983S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299677	NM_020888.3(NHSL3):c.2645C>T (p.Ser882Leu)	NHSL3 (S882L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299676	NM_020888.3(NHSL3):c.2869G>A (p.Glu957Lys)	NHSL3 (E957K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299675	NM_020888.3(NHSL3):c.2225C>A (p.Pro742Gln)	NHSL3 (P683Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299673	NM_020888.3(NHSL3):c.684T>A (p.His228Gln)	NHSL3 (H169Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299672	NM_020888.3(NHSL3):c.1565C>G (p.Pro522Arg)	NHSL3 (P522R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235312	NM_020888.3(NHSL3):c.881G>T (p.Arg294Leu)	NHSL3 (R235L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235311	NM_020888.3(NHSL3):c.830C>T (p.Ala277Val)	NHSL3 (A218V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235310	NM_020888.3(NHSL3):c.821C>T (p.Ser274Phe)	NHSL3 (S215F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235309	NM_020888.3(NHSL3):c.74A>G (p.Lys25Arg)	NHSL3 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235307	NM_020888.3(NHSL3):c.566C>T (p.Ser189Leu)	NHSL3 (S130L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235306	NM_020888.3(NHSL3):c.470G>A (p.Arg157Gln)	NHSL3 (R109Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235305	NM_020888.3(NHSL3):c.3200C>T (p.Ala1067Val)	NHSL3 (A1008V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235303	NM_020888.3(NHSL3):c.3109G>A (p.Ala1037Thr)	NHSL3 (A1037T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3235302	NM_020888.3(NHSL3):c.3019T>G (p.Ser1007Ala)	NHSL3 (S1007A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235301	NM_020888.3(NHSL3):c.2941C>G (p.Leu981Val)	NHSL3 (L922V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235300	NM_020888.3(NHSL3):c.2881C>T (p.Arg961Trp)	NHSL3 (R902W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235299	NM_020888.3(NHSL3):c.2842T>C (p.Ser948Pro)	NHSL3 (S889P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235298	NM_020888.3(NHSL3):c.2827G>A (p.Ala943Thr)	NHSL3 (A884T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235296	NM_020888.3(NHSL3):c.2491G>C (p.Gly831Arg)	NHSL3 (G772R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235295	NM_020888.3(NHSL3):c.2234A>G (p.Lys745Arg)	NHSL3 (K686R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235294	NM_020888.3(NHSL3):c.2210A>G (p.Tyr737Cys)	NHSL3 (Y678C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235293	NM_020888.3(NHSL3):c.212A>G (p.Lys71Arg)	NHSL3 (K71R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3235292	NM_020888.3(NHSL3):c.2107A>G (p.Ser703Gly)	NHSL3 (S644G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235291	NM_020888.3(NHSL3):c.2045C>T (p.Pro682Leu)	NHSL3 (P623L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235290	NM_020888.3(NHSL3):c.2008T>G (p.Phe670Val)	NHSL3 (F611V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235289	NM_020888.3(NHSL3):c.2008T>C (p.Phe670Leu)	NHSL3 (F611L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235288	NM_020888.3(NHSL3):c.199G>A (p.Glu67Lys)	NHSL3 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235287	NM_020888.3(NHSL3):c.1934G>A (p.Arg645His)	NHSL3 (R586H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235286	NM_020888.3(NHSL3):c.1918C>T (p.Pro640Ser)	NHSL3 (P581S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235284	NM_020888.3(NHSL3):c.179C>T (p.Ala60Val)	NHSL3 (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235283	NM_020888.3(NHSL3):c.1523A>G (p.His508Arg)	NHSL3 (H449R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235282	NM_020888.3(NHSL3):c.1498C>A (p.Pro500Thr)	NHSL3 (P441T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235281	NM_020888.3(NHSL3):c.1411G>A (p.Glu471Lys)	NHSL3 (E412K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235280	NM_020888.3(NHSL3):c.1337C>T (p.Thr446Met)	NHSL3 (T387M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3235279	NM_020888.3(NHSL3):c.1149C>G (p.His383Gln)	NHSL3 (H324Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	A2ML1-AS2, A3GALT2 +2151 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)	not specified	GUncertain significance
Select item 2569694	NM_020888.3(NHSL3):c.145A>G (p.Lys49Glu)	NHSL3 (K49E)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2555335	NM_020888.3(NHSL3):c.469C>T (p.Arg157Trp)	NHSL3 (R109W +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2524438	NM_020888.3(NHSL3):c.65C>A (p.Pro22Gln)	NHSL3 (P22Q)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2509495	NM_020888.3(NHSL3):c.137G>T (p.Arg46Leu)	NHSL3 (R46L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2488314	NM_020888.3(NHSL3):c.562C>A (p.Arg188Ser)	NHSL3 (R140S +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2379789	NM_020888.3(NHSL3):c.196G>T (p.Ala66Ser)	NHSL3 (A66S)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2367069	NM_020888.3(NHSL3):c.503G>A (p.Cys168Tyr)	NHSL3 (C109Y +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2290560	NM_020888.3(NHSL3):c.550G>A (p.Ala184Thr)	NHSL3 (A125T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267929	NM_020888.3(NHSL3):c.16C>T (p.Pro6Ser)	NHSL3 (P6S)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2247582	NM_020888.3(NHSL3):c.349C>G (p.His117Asp)	NHSL3 (H117D +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2239702	NM_020888.3(NHSL3):c.431G>A (p.Gly144Asp)	NHSL3 (G85D +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2214555	NM_020888.3(NHSL3):c.371A>G (p.Gln124Arg)	NHSL3 (Q76R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211525	NM_020888.3(NHSL3):c.1498C>G (p.Pro500Ala)	NHSL3 (P441A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance

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