ClinVar for Gene (Select 6596) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351649	NM_003071.4(HLTF):c.584A>G (p.Tyr195Cys)	HLTF (Y195C)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3351180	NM_003071.4(HLTF):c.1894C>T (p.Arg632Cys)	HLTF (R631C +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3350524	NM_003071.4(HLTF):c.2100A>G (p.Ala700=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 3284443	NM_003071.4(HLTF):c.593C>T (p.Pro198Leu)	HLTF (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284441	NM_003071.4(HLTF):c.1342G>A (p.Val448Ile)	HLTF (V448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284440	NM_003071.4(HLTF):c.2603A>T (p.Glu868Val)	HLTF (E867V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284439	NM_003071.4(HLTF):c.1895G>A (p.Arg632His)	HLTF (R631H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284438	NM_003071.4(HLTF):c.440A>C (p.His147Pro)	HLTF (H147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284437	NM_003071.4(HLTF):c.814T>C (p.Tyr272His)	HLTF (Y272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3106181	NM_003071.4(HLTF):c.638A>T (p.Glu213Val)	HLTF (E213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106180	NM_003071.4(HLTF):c.434C>G (p.Pro145Arg)	HLTF (P145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106179	NM_003071.4(HLTF):c.349G>T (p.Gly117Cys)	HLTF (G117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106177	NM_003071.4(HLTF):c.2672T>C (p.Val891Ala)	HLTF (V891A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106175	NM_003071.4(HLTF):c.226G>A (p.Val76Ile)	HLTF (V76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106174	NM_003071.4(HLTF):c.1711A>G (p.Lys571Glu)	HLTF (K571E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106173	NM_003071.4(HLTF):c.1508A>G (p.His503Arg)	HLTF (H502R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106172	NM_003071.4(HLTF):c.1448C>T (p.Pro483Leu)	HLTF (P482L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061131	NM_003071.4(HLTF):c.1032C>A (p.Asn344Lys)	HLTF (N344K)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3056755	NM_003071.4(HLTF):c.2411T>C (p.Ile804Thr)	HLTF (I803T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3054258	NM_003071.4(HLTF):c.760C>T (p.Arg254Trp)	HLTF (R254W)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3053768	NM_003071.4(HLTF):c.1151G>A (p.Arg384His)	HLTF (R384H)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3052330	NM_003071.4(HLTF):c.2797-7T>C	HLTF	Single nucleotide variant (intron variant)	HLTF-related disorder	GLikely benign
Select item 3051879	NM_003071.4(HLTF):c.1304T>C (p.Ile435Thr)	HLTF (I434T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3051658	NM_003071.4(HLTF):c.1255G>A (p.Val419Ile)	HLTF (V419I)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3050310	NM_003071.4(HLTF):c.1068C>T (p.Asp356=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 3049166	NM_003071.4(HLTF):c.2471A>C (p.Lys824Thr)	HLTF (K823T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3041528	NM_003071.4(HLTF):c.990+6G>A	HLTF	Single nucleotide variant (intron variant)	HLTF-related disorder	GLikely benign
Select item 3041292	NM_003071.4(HLTF):c.2440C>T (p.Pro814Ser)	HLTF (P813S +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3036939	NM_003071.4(HLTF):c.2059G>A (p.Ala687Thr)	HLTF (A686T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3036937	NM_003071.4(HLTF):c.1227G>A (p.Pro409=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 3030640	NM_003071.4(HLTF):c.2511G>A (p.Ala837=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 2685093	GRCh37/hg19 3q24-25.1(chr3:148688674-148940860)x1	CP, GYG1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654214	NM_003071.4(HLTF):c.477G>A (p.Ala159=)	HLTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654213	NM_003071.4(HLTF):c.1944C>T (p.Ser648=)	HLTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635823	NM_003071.4(HLTF):c.1555G>A (p.Ala519Thr)	HLTF (A518T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 2634181	NM_003071.4(HLTF):c.2189G>A (p.Gly730Asp)	HLTF (G729D +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 2633347	NM_003071.4(HLTF):c.1256T>C (p.Val419Ala)	HLTF (V419A)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 2629091	NM_003071.4(HLTF):c.855A>T (p.Glu285Asp)	HLTF (E285D)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 2616737	NM_003071.4(HLTF):c.2983A>T (p.Met995Leu)	HLTF (M994L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609598	NM_003071.4(HLTF):c.2371G>A (p.Glu791Lys)	HLTF (E790K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606781	NM_003071.4(HLTF):c.98T>C (p.Phe33Ser)	HLTF (F33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559674	NM_003071.4(HLTF):c.908C>G (p.Thr303Arg)	HLTF (T303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536548	NM_003071.4(HLTF):c.599A>G (p.His200Arg)	HLTF (H200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536062	NM_003071.4(HLTF):c.2653A>G (p.Met885Val)	HLTF (M885V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525908	NM_003071.4(HLTF):c.1015A>G (p.Met339Val)	HLTF (M339V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522401	NM_003071.4(HLTF):c.1762C>T (p.Pro588Ser)	HLTF (P587S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513501	NM_003071.4(HLTF):c.1280C>T (p.Ala427Val)	HLTF (A427V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508703	NM_003071.4(HLTF):c.124G>T (p.Val42Phe)	HLTF (V42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507676	NM_003071.4(HLTF):c.1543A>G (p.Ile515Val)	HLTF (I515V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493929	NM_003071.4(HLTF):c.605C>T (p.Ala202Val)	HLTF (A202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487568	NM_003071.4(HLTF):c.220A>G (p.Thr74Ala)	HLTF (T74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476660	NM_003071.4(HLTF):c.1406C>A (p.Thr469Asn)	HLTF (T468N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464676	NM_003071.4(HLTF):c.2732C>G (p.Ser911Cys)	HLTF (S910C +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder +1 more	GUncertain significance
Select item 2456084	NM_003071.4(HLTF):c.1019A>C (p.Lys340Thr)	HLTF (K340T)	Single nucleotide variant (missense variant)	HLTF-related disorder +1 more	GUncertain significance
Select item 2402411	NM_003071.4(HLTF):c.542A>G (p.Asn181Ser)	HLTF (N181S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386669	NM_003071.4(HLTF):c.800G>A (p.Arg267Gln)	HLTF (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381994	NM_003071.4(HLTF):c.2186A>G (p.Asn729Ser)	HLTF (N728S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381625	NM_003071.4(HLTF):c.2777G>A (p.Arg926Gln)	HLTF (R926Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379599	NM_003071.4(HLTF):c.1613A>C (p.Tyr538Ser)	HLTF (Y537S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330386	NM_003071.4(HLTF):c.287A>G (p.Asn96Ser)	HLTF (N96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328947	NM_003071.4(HLTF):c.440A>G (p.His147Arg)	HLTF (H147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328024	NM_003071.4(HLTF):c.2779G>T (p.Val927Leu)	HLTF (V927L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318343	NM_003071.4(HLTF):c.955C>G (p.Pro319Ala)	HLTF (P319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314331	NM_003071.4(HLTF):c.2105A>T (p.Tyr702Phe)	HLTF (Y701F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301179	NM_003071.4(HLTF):c.2807C>G (p.Pro936Arg)	HLTF (P935R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293901	NM_003071.4(HLTF):c.1440C>G (p.Ile480Met)	HLTF (I479M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290022	NM_003071.4(HLTF):c.848G>A (p.Arg283Gln)	HLTF (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288520	NM_003071.4(HLTF):c.2549C>T (p.Pro850Leu)	HLTF (P849L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282106	NM_003071.4(HLTF):c.2902G>A (p.Glu968Lys)	HLTF (E968K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269106	NM_003071.4(HLTF):c.1172C>T (p.Ala391Val)	HLTF (A391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267926	NM_003071.4(HLTF):c.1181A>G (p.Tyr394Cys)	HLTF (Y394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264836	NM_003071.4(HLTF):c.851C>T (p.Pro284Leu)	HLTF (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255210	NM_003071.4(HLTF):c.2883T>G (p.Ile961Met)	HLTF (I961M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245070	NM_003071.4(HLTF):c.1979A>C (p.Glu660Ala)	HLTF (E660A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240199	NM_003071.4(HLTF):c.1589C>T (p.Thr530Met)	HLTF (T530M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220429	NM_003071.4(HLTF):c.2657C>A (p.Ala886Asp)	HLTF (A885D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205409	NM_003071.4(HLTF):c.2410A>G (p.Ile804Val)	HLTF (I804V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809437	GRCh37/hg19 3q24(chr3:148498814-148767065)x3	CPA3, CPB1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	CPB1, EIF2A +28 more	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1235236	NM_003071.4(HLTF):c.20+425T>C	HLTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 789718	NM_003071.4(HLTF):c.995A>G (p.Tyr332Cys)	HLTF (Y332C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789717	NM_003071.4(HLTF):c.1127G>A (p.Arg376His)	HLTF (R376H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787259	NM_003071.4(HLTF):c.2284A>G (p.Ile762Val)	HLTF (I762V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780897	NM_003071.4(HLTF):c.1084G>C (p.Glu362Gln)	HLTF (E362Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780432	NM_003071.4(HLTF):c.84C>T (p.Leu28=)	HLTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780431	NM_003071.4(HLTF):c.806A>G (p.Asp269Gly)	HLTF (D269G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777802	NM_003071.4(HLTF):c.1132T>A (p.Ser378Thr)	HLTF (S378T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775912	NM_003071.4(HLTF):c.1506A>G (p.Val502=)	HLTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic

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