26267[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	LOC130000285, LOC130000286 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 653514	NC_000008.10:g.(?_42693095)_(42978030_?)dup	FNTA, HOOK3 +11 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 147299	GRCh38/hg38 8p11.21-11.1(chr8:42900304-43673207)x3	FNTA, HGSNAT +14 more	Copy number gain	See cases	GUncertain significance
Select item 149238	GRCh38/hg38 8p11.21-11.1(chr8:43003465-43686843)x3	FNTA, HGSNAT +13 more	Copy number gain	See cases	GLikely benign
Select item 150564	GRCh38/hg38 8p11.21-11.1(chr8:43003468-43686841)x3	FNTA, HGSNAT +13 more	Copy number gain	See cases	GBenign
Select item 387812	NM_032237.5(POMK):c.-222G>T	POMK	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 420190	NM_032237.5(POMK):c.-209-1_-207del	POMK	Deletion (splice acceptor variant)	not provided	GBenign
Select item 1186478	NM_032237.5(POMK):c.-21-298T>G	POMK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152192	GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GBenign/Likely benign
Select item 1215652	NM_032237.5(POMK):c.-21-69A>G	POMK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 542426	NC_000008.10:g.(?_42958672)_(43054732_?)dup	LOC121740716, HGSNAT +7 more	Duplication	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 655750	NC_000008.10:g.(?_42958682)_(42978030_?)dup	POMK	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 651249	NC_000008.11:g.(?_43103539)_(43103840_?)del	POMK	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 999804	NM_032237.5(POMK):c.1A>G (p.Met1Val)	POMK (M1V)	Single nucleotide variant (missense variant +1 more)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1047054	NM_032237.5(POMK):c.3G>C (p.Met1Ile)	POMK (M1I)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 849427	NM_032237.5(POMK):c.10C>T (p.Gln4Ter)	POMK (Q4*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 432418	NM_032237.5(POMK):c.20A>G (p.Asn7Ser)	POMK (N7S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1009402	NM_032237.5(POMK):c.28A>G (p.Arg10Gly)	POMK (R10G)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1618648	NM_032237.5(POMK):c.33C>A (p.Gly11=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 774261	NM_032237.5(POMK):c.33C>G (p.Gly11=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
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 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 817678	NM_032237.5(POMK):c.43dup (p.Arg15fs)	POMK (R15fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1312754	NM_032237.5(POMK):c.38C>T (p.Ala13Val)	POMK (A13V)	Single nucleotide variant (missense variant)	not provided	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 1637756	NM_032237.5(POMK):c.39C>G (p.Ala13=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 1376882	NM_032237.5(POMK):c.43C>G (p.Arg15Gly)	POMK (R15G)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1076046	NM_032237.5(POMK):c.43C>T (p.Arg15Ter)	POMK (R15*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GPathogenic
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 705716	NM_032237.5(POMK):c.44G>A (p.Arg15Gln)	POMK (R15Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1116908	NM_032237.5(POMK):c.45A>G (p.Arg15=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 1502572	NM_032237.5(POMK):c.46G>A (p.Glu16Lys)	POMK (E16K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 851474	NM_032237.5(POMK):c.47A>G (p.Glu16Gly)	POMK (E16G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1424147	NM_032237.5(POMK):c.49G>T (p.Val17Leu)	POMK (V17L)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GUncertain significance
Select item 704894	NM_032237.5(POMK):c.51G>T (p.Val17=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
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 508002	NM_032237.5(POMK):c.54G>A (p.Pro18=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GLikely benign
Select item 966592	NM_032237.5(POMK):c.55C>T (p.Pro19Ser)	POMK (P19S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1581040	NM_032237.5(POMK):c.66G>T (p.Gly22=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 474195	NM_032237.5(POMK):c.68T>C (p.Leu23Pro)	POMK (L23P)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1021068	NM_032237.5(POMK):c.74T>C (p.Leu25Pro)	POMK (L25P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 661426	NM_032237.5(POMK):c.76A>C (p.Ile26Leu)	POMK (I26L)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1064158	NM_032237.5(POMK):c.80T>C (p.Met27Thr)	POMK (M27T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GUncertain significance
Select item 1041532	NM_032237.5(POMK):c.82G>T (p.Ala28Ser)	POMK (A28S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GUncertain significance
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 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 2543118	NM_032237.5(POMK):c.98T>C (p.Leu33Pro)	POMK (L33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1384332	NM_032237.5(POMK):c.110G>C (p.Cys37Ser)	POMK (C37S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1113181	NM_032237.5(POMK):c.111C>T (p.Cys37=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
Select item 262020	NM_032237.5(POMK):c.114C>T (p.Leu38=)	POMK	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1361583	NM_032237.5(POMK):c.115G>A (p.Asp39Asn)	POMK (D39N)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1006660	NM_032237.5(POMK):c.121T>G (p.Phe41Val)	POMK (F41V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 1306267	NM_032237.5(POMK):c.127A>G (p.Ile43Val)	POMK (I43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732591	NM_032237.5(POMK):c.129C>T (p.Ile43=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 3308901	NM_032237.5(POMK):c.134C>T (p.Pro45Leu)	POMK (P45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813967	NM_032237.5(POMK):c.136C>T (p.Arg46Ter)	POMK (R46*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GConflicting classifications of pathogenicity
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 474189	NM_032237.5(POMK):c.142T>C (p.Ser48Pro)	POMK (S48P)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1119594	NM_032237.5(POMK):c.150G>C (p.Val50=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 1071646	NM_032237.5(POMK):c.152del (p.Asp51fs)	POMK (D51fs)	Deletion (frameshift variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GPathogenic
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 863624	NM_032237.5(POMK):c.168C>G (p.Pro56=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
Select item 1011886	NM_032237.5(POMK):c.170A>G (p.Tyr57Cys)	POMK (Y57C)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
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 1405599	NM_032237.5(POMK):c.181A>G (p.Arg61Gly)	POMK (R61G)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 1513572	NM_032237.5(POMK):c.183G>C (p.Arg61Ser)	POMK (R61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1094680	NM_032237.5(POMK):c.183G>A (p.Arg61=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 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 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 1412335	NM_032237.5(POMK):c.215T>C (p.Leu72Pro)	POMK (L72P)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 541244	NM_032237.5(POMK):c.219C>G (p.Ser73=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GLikely benign
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 735218	NM_032237.5(POMK):c.222C>T (p.Cys74=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GLikely benign
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 1362540	NM_032237.5(POMK):c.236C>G (p.Thr79Arg)	POMK (T79R)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GUncertain significance
Select item 582702	NM_032237.5(POMK):c.238_239del (p.Glu80fs)	POMK (E80fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic

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