ClinVar for Gene (Select 6476) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246962	NC_000003.11:g.(?_164764609)_(164777835_?)del	SI	Deletion	not provided	GPathogenic
Select item 3162047	NM_001041.4(SI):c.848G>T (p.Cys283Phe)	SI (C283F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162046	NM_001041.4(SI):c.5080C>A (p.Gln1694Lys)	SI (Q1694K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162043	NM_001041.4(SI):c.5060G>C (p.Gly1687Ala)	SI (G1687A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162042	NM_001041.4(SI):c.4445T>C (p.Ile1482Thr)	SI (I1482T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162040	NM_001041.4(SI):c.4403A>T (p.His1468Leu)	SI (H1468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162039	NM_001041.4(SI):c.4140C>A (p.Asp1380Glu)	SI (D1380E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162038	NM_001041.4(SI):c.3527C>T (p.Thr1176Ile)	SI (T1176I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162037	NM_001041.4(SI):c.3240C>G (p.Ser1080Arg)	SI (S1080R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162036	NM_001041.4(SI):c.3076A>G (p.Lys1026Glu)	SI (K1026E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162035	NM_001041.4(SI):c.3011C>A (p.Ala1004Glu)	SI (A1004E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162033	NM_001041.4(SI):c.2471A>G (p.Asn824Ser)	SI (N824S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162032	NM_001041.4(SI):c.242A>G (p.Gln81Arg)	SI (Q81R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162031	NM_001041.4(SI):c.2121T>A (p.His707Gln)	SI (H707Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162030	NM_001041.4(SI):c.20G>C (p.Ser7Thr)	SI (S7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3162029	NM_001041.4(SI):c.2071A>C (p.Ile691Leu)	SI (I691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162027	NM_001041.4(SI):c.1685A>T (p.Tyr562Phe)	SI (Y562F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162026	NM_001041.4(SI):c.1656G>C (p.Trp552Cys)	SI (W552C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162025	NM_001041.4(SI):c.151A>G (p.Thr51Ala)	SI (T51A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058238	NM_001041.4(SI):c.3346dup (p.Glu1116fs)	SI (E1116fs)	Duplication (frameshift variant)	SI-related disorder	GLikely pathogenic
Select item 3057820	NM_001041.4(SI):c.717T>C (p.Tyr239=)	SI	Single nucleotide variant (synonymous variant)	SI-related disorder	GLikely benign
Select item 3057480	NM_001041.4(SI):c.4947C>T (p.Ala1649=)	SI	Single nucleotide variant (synonymous variant)	SI-related disorder	GLikely benign
Select item 3047054	NM_001041.4(SI):c.2684dup (p.Asn895fs)	SI (N895fs)	Duplication (frameshift variant)	SI-related disorder	GLikely pathogenic
Select item 3039613	NM_001041.4(SI):c.3633+7T>C	SI	Single nucleotide variant (intron variant)	SI-related disorder	GLikely benign
Select item 3031912	NM_001041.4(SI):c.5217A>G (p.Leu1739=)	SI	Single nucleotide variant (synonymous variant)	SI-related disorder	GLikely benign
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	BCHE, GOLIM4 +7 more	Copy number loss	not provided	GPathogenic
Select item 3013613	NM_001041.4(SI):c.3255-8G>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011989	NM_001041.4(SI):c.4984-1G>A	SI	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3011577	NM_001041.4(SI):c.3520+10T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010847	NM_001041.4(SI):c.1278+13T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009687	NM_001041.4(SI):c.5127G>A (p.Lys1709=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008856	NM_001041.4(SI):c.1512+10dup	SI	Duplication (intron variant)	not provided	GLikely benign
Select item 3008798	NM_001041.4(SI):c.1278+11A>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007438	NM_001041.4(SI):c.686T>C (p.Ile229Thr)	SI (I229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005054	NM_001041.4(SI):c.1699G>A (p.Ala567Thr)	SI (A567T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004804	NM_001041.4(SI):c.4863C>T (p.Thr1621=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004083	NM_001041.4(SI):c.807+18T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003229	NM_001041.4(SI):c.1512+19C>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002262	NM_001041.4(SI):c.4617T>C (p.Tyr1539=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001529	NM_001041.4(SI):c.2305G>A (p.Ala769Thr)	SI (A769T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001214	NM_001041.4(SI):c.4692+15C>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001127	NM_001041.4(SI):c.3424-6T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000042	NM_001041.4(SI):c.648C>A (p.Ser216Arg)	SI (S216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996946	NM_001041.4(SI):c.2302-13T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995291	NM_001041.4(SI):c.256-18T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994693	NM_001041.4(SI):c.2736+13T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993705	NM_001041.4(SI):c.1939A>C (p.Arg647=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993169	NM_001041.4(SI):c.887del (p.Phe295_Leu296insTer)	SI	Deletion (nonsense)	not provided	GPathogenic
Select item 2992782	NM_001041.4(SI):c.1889T>C (p.Val630Ala)	SI (V630A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992422	NM_001041.4(SI):c.4406+17A>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992167	NM_001041.4(SI):c.4062+17C>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991443	NM_001041.4(SI):c.4541-2A>T	SI	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2990273	NM_001041.4(SI):c.4114G>C (p.Glu1372Gln)	SI (E1372Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987928	NM_001041.4(SI):c.2005-13T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987372	NM_001041.4(SI):c.3204G>A (p.Lys1068=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986543	NM_001041.4(SI):c.2245-14T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986042	NM_001041.4(SI):c.2244+9T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983971	NM_001041.4(SI):c.4980_4981del (p.Thr1661fs)	SI (T1661fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2983514	NM_001041.4(SI):c.1598-12A>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983250	NM_001041.4(SI):c.2245-13A>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982463	NM_001041.4(SI):c.1356G>A (p.Val452=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981063	NM_001041.4(SI):c.3711A>G (p.Ser1237=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980601	NM_001041.4(SI):c.2511T>G (p.Thr837=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979635	NM_001041.4(SI):c.2029C>A (p.Gln677Lys)	SI (Q677K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979095	NM_001041.4(SI):c.1785A>C (p.Gly595=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978138	NM_001041.4(SI):c.2892+7A>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976983	NM_001041.4(SI):c.3099G>A (p.Lys1033=)	SI	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2973949	NM_001041.4(SI):c.2699A>G (p.Asn900Ser)	SI (N900S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973940	NM_001041.4(SI):c.1015C>T (p.Gln339Ter)	SI (Q339*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2972553	NM_001041.4(SI):c.231C>T (p.Cys77=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971707	NM_001041.4(SI):c.4540+10A>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971132	NM_001041.4(SI):c.3999+11G>A	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970254	NM_001041.4(SI):c.4693-16T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969600	NM_001041.4(SI):c.720T>C (p.Gly240=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969453	NM_001041.4(SI):c.2892+8T>A	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966383	NM_001041.4(SI):c.2005-12T>A	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964875	NM_001041.4(SI):c.3254+14T>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963688	NM_001041.4(SI):c.636-16T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963619	NM_001041.4(SI):c.255+16C>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963442	NM_001041.4(SI):c.807+7A>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962696	NM_001041.4(SI):c.4540+17A>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960643	NM_001041.4(SI):c.2737-20_2737-19insA	SI	Insertion (intron variant)	not provided	GLikely benign
Select item 2959677	NM_001041.4(SI):c.4575+17C>T	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957979	NM_001041.4(SI):c.4407-5A>G	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957581	NM_001041.4(SI):c.5379A>G (p.Lys1793=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956638	NM_001041.4(SI):c.1592C>T (p.Thr531Ile)	SI (T531I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956355	NM_001041.4(SI):c.1419A>G (p.Val473=)	SI	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2956342	NM_001041.4(SI):c.5415+10G>A	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956162	NM_001041.4(SI):c.5385G>T (p.Ser1795=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955188	NM_001041.4(SI):c.2737-24_2737-19del	SI	Deletion (intron variant)	not provided	GLikely benign
Select item 2955140	NM_001041.4(SI):c.2244+2_2244+5del	SI	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2917255	NM_001041.4(SI):c.3139C>G (p.Pro1047Ala)	SI (P1047A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909276	NM_001041.4(SI):c.3642C>T (p.Gly1214=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908887	NM_001041.4(SI):c.3330T>C (p.Tyr1110=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903339	NM_001041.4(SI):c.1507T>C (p.Trp503Arg)	SI (W503R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901262	NM_001041.4(SI):c.2331G>A (p.Arg777=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900097	NM_001041.4(SI):c.5481A>G (p.Ser1827=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899888	NM_001041.4(SI):c.1374T>C (p.Asp458=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895277	NM_001041.4(SI):c.3747T>A (p.Ala1249=)	SI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894231	NM_001041.4(SI):c.256-9T>C	SI	Single nucleotide variant (intron variant)	not provided	GLikely benign

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