ClinVar for Gene (Select 84197) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3216738	NM_032237.5(POMK):c.286T>C (p.Phe96Leu)	POMK (F96L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068782	NC_000008.10:g.(42958974_42977249)_(42978578_?)dup	POMK	Duplication	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2951325	NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)	POMK (Y215*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 2945834	NM_032237.5(POMK):c.847del (p.Trp283fs)	POMK (W283fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 2944091	NM_032237.5(POMK):c.312A>G (p.Lys104=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2937702	NM_032237.5(POMK):c.174T>G (p.Gly58=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2936124	NM_032237.5(POMK):c.553T>C (p.Tyr185His)	POMK (Y185H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2932988	NM_032237.5(POMK):c.408G>T (p.Thr136=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2932937	NM_032237.5(POMK):c.724dup (p.Val242fs)	POMK (V242fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 2932843	NM_032237.5(POMK):c.276A>G (p.Val92=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2929827	NM_032237.5(POMK):c.489A>C (p.Thr163=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2928205	NM_032237.5(POMK):c.315T>G (p.Val105=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2927569	NM_032237.5(POMK):c.522G>A (p.Thr174=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2926947	NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)	POMK	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 2925277	NM_032237.5(POMK):c.96T>G (p.Thr32=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2689811	NM_032237.5(POMK):c.742G>C (p.Glu248Gln)	POMK (E248Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2683017	NM_032237.5(POMK):c.803del (p.Phe268fs)	POMK (F268fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GConflicting classifications of pathogenicity
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2635081	NM_032237.5(POMK):c.615dup (p.Asn206fs)	POMK (N206fs)	Duplication (frameshift variant)	POMK-related disorder	GLikely pathogenic
Select item 2634888	NM_032237.5(POMK):c.398_399del (p.His133fs)	POMK (H133fs)	Deletion (frameshift variant)	POMK-related disorder	GLikely pathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2550133	NM_032237.5(POMK):c.799C>T (p.Pro267Ser)	POMK (P267S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543118	NM_032237.5(POMK):c.98T>C (p.Leu33Pro)	POMK (L33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435180	NM_032237.5(POMK):c.733G>A (p.Gly245Ser)	POMK (G245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435179	NM_032237.5(POMK):c.667A>G (p.Ile223Val)	POMK (I223V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435178	NM_032237.5(POMK):c.582C>G (p.His194Gln)	POMK (H194Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427380	NC_000008.10:g.(?_42958692)_(43016670_?)dup	HGSNAT, POMK	Duplication	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2427026	NC_000008.10:g.(?_42977230)_(43054712_?)dup	HGSNAT, POMK	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2425642	NC_000008.10:g.(?_41518984)_(43054712_?)dup	ANK1, AP3M2 +16 more	Duplication	Torsion dystonia 6	GUncertain significance
Select item 2418888	NM_032237.5(POMK):c.223G>A (p.Glu75Lys)	POMK (E75K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2314008	NM_032237.5(POMK):c.358C>G (p.Leu120Val)	POMK (L120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277827	NM_032237.5(POMK):c.439A>G (p.Met147Val)	POMK (M147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190123	NM_032237.5(POMK):c.44G>T (p.Arg15Leu)	POMK (R15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2187902	NM_032237.5(POMK):c.473G>A (p.Ser158Asn)	POMK (S158N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2177585	NM_032237.5(POMK):c.464G>C (p.Gly155Ala)	POMK (G155A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2165161	NM_032237.5(POMK):c.247C>T (p.Gln83Ter)	POMK (Q83*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GPathogenic
Select item 2158045	NM_032237.5(POMK):c.94_98del (p.Thr32fs)	POMK (T32fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 2149793	NM_032237.5(POMK):c.454C>A (p.His152Asn)	POMK (H152N)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2149218	NM_032237.5(POMK):c.283-6T>C	POMK	Single nucleotide variant (intron variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GLikely benign
Select item 2147251	NM_032237.5(POMK):c.197A>G (p.Lys66Arg)	POMK (K66R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2145630	NM_032237.5(POMK):c.311A>G (p.Lys104Arg)	POMK (K104R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2145115	NM_032237.5(POMK):c.259G>C (p.Val87Leu)	POMK (V87L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2142272	NM_032237.5(POMK):c.970G>T (p.Ala324Ser)	POMK (A324S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2140882	NM_032237.5(POMK):c.36C>T (p.Leu12=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2135480	NM_032237.5(POMK):c.577C>G (p.His193Asp)	POMK (H193D)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2134500	NM_032237.5(POMK):c.739A>G (p.Arg247Gly)	POMK (R247G)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2122321	NM_032237.5(POMK):c.745C>T (p.Leu249=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 2121094	NM_032237.5(POMK):c.401T>A (p.Val134Asp)	POMK (V134D)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2109129	NM_032237.5(POMK):c.422G>C (p.Cys141Ser)	POMK (C141S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2098688	NM_032237.5(POMK):c.825A>T (p.Ser275=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2094836	NM_032237.5(POMK):c.598C>T (p.Arg200Trp)	POMK (R200W)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GUncertain significance
Select item 2080362	NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)	POMK (Y140C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2079583	NM_032237.5(POMK):c.737A>G (p.His246Arg)	POMK (H246R)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2071326	NM_032237.5(POMK):c.333C>T (p.Thr111=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2067440	NM_032237.5(POMK):c.137G>A (p.Arg46Gln)	POMK (R46Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2061150	NM_032237.5(POMK):c.521C>T (p.Thr174Met)	POMK (T174M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2055363	NM_032237.5(POMK):c.555T>C (p.Tyr185=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2051909	NM_032237.5(POMK):c.551A>G (p.Asp184Gly)	POMK (D184G)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2050019	NM_032237.5(POMK):c.222C>G (p.Cys74Trp)	POMK (C74W)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2039817	NM_032237.5(POMK):c.642G>A (p.Gln214=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 2038150	NM_032237.5(POMK):c.634C>G (p.Leu212Val)	POMK (L212V)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 2031402	NM_032237.5(POMK):c.804C>T (p.Phe268=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2023046	NM_032237.5(POMK):c.282+10G>A	POMK	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 2012134	NM_032237.5(POMK):c.502A>G (p.Lys168Glu)	POMK (K168E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 2002655	NM_032237.5(POMK):c.280A>T (p.Arg94Ter)	POMK (R94*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GPathogenic
Select item 1998287	NM_032237.5(POMK):c.808G>C (p.Asp270His)	POMK (D270H)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1991578	NM_032237.5(POMK):c.311A>C (p.Lys104Thr)	POMK (K104T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1983785	NM_032237.5(POMK):c.622C>T (p.Leu208=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1981673	NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)	POMK (C313Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GUncertain significance
Select item 1980590	NM_032237.5(POMK):c.53C>T (p.Pro18Leu)	POMK (P18L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1978216	NM_032237.5(POMK):c.39C>T (p.Ala13=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1962693	NM_032237.5(POMK):c.504G>A (p.Lys168=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1962085	NM_032237.5(POMK):c.37G>A (p.Ala13Thr)	POMK (A13T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1961172	NM_032237.5(POMK):c.1011A>G (p.Thr337=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1960878	NM_032237.5(POMK):c.154C>T (p.Pro52Ser)	POMK (P52S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1958313	NM_032237.5(POMK):c.437C>G (p.Thr146Ser)	POMK (T146S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1934707	NM_032237.5(POMK):c.822C>T (p.Pro274=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 1933882	NM_032237.5(POMK):c.914A>G (p.His305Arg)	POMK (H305R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1931586	NM_032237.5(POMK):c.208C>T (p.Pro70Ser)	POMK (P70S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1911792	NM_032237.5(POMK):c.754dup (p.Asp252fs)	POMK (D252fs)	Duplication (frameshift variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GPathogenic
Select item 1906472	NM_032237.5(POMK):c.24C>T (p.Ser8=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1899455	NM_032237.5(POMK):c.385C>T (p.Leu129Phe)	POMK (L129F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1895531	NM_032237.5(POMK):c.869G>C (p.Ser290Thr)	POMK (S290T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1807741	GRCh37/hg19 8p11.21(chr8:42303398-43002481)x1	CHRNA6, CHRNB3 +8 more	Copy number loss	not provided	GPathogenic
Select item 1806636	NM_032237.5(POMK):c.721C>G (p.Leu241Val)	POMK (L241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805415	NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)	POMK (D118Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	GUncertain significance
Select item 1716736	NM_032237.5(POMK):c.859G>A (p.Asp287Asn)	POMK (D287N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1691297	NM_032237.5(POMK):c.268G>A (p.Gly90Arg)	POMK (G90R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	GUncertain significance
Select item 1668644	NM_032237.5(POMK):c.906C>T (p.Val302=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1668545	NM_032237.5(POMK):c.807C>T (p.His269=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign

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