8964[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 3212799	NM_004569.5(PIGH):c.524A>G (p.Gln175Arg)	GPHN, PIGH (Q174R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209457	NM_004569.5(PIGH):c.503T>C (p.Ile168Thr)	GPHN, PIGH (I168T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212798	NM_004569.5(PIGH):c.496T>A (p.Cys166Ser)	GPHN, PIGH (C165S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332855	NM_004569.5(PIGH):c.487C>T (p.Arg163Trp)	GPHN, PIGH (R162W +1 more)	Single nucleotide variant (missense variant)	PIGH-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 161623	NM_004569.5(PIGH):c.471C>G (p.Phe157Leu)	GPHN, PIGH (F157L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2644333	NM_004569.5(PIGH):c.421T>C (p.Leu141=)	PIGH, GPHN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2519658	NM_004569.5(PIGH):c.374A>G (p.Asn125Ser)	GPHN, PIGH (N125S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545631	NM_004569.5(PIGH):c.307T>C (p.Ser103Pro)	GPHN, PIGH (S103P)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 17	GPathogenic
Select item 3056965	NM_004569.5(PIGH):c.276C>T (p.Ile92=)	PIGH, GPHN	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GBenign
Select item 2541256	NM_004569.5(PIGH):c.236A>G (p.Tyr79Cys)	GPHN, PIGH (Y79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401075	NM_004569.5(PIGH):c.229C>T (p.Leu77Phe)	GPHN, PIGH (L77F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261018	NM_004569.5(PIGH):c.188T>C (p.Met63Thr)	GPHN, PIGH (M63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540024	NM_004569.5(PIGH):c.187A>G (p.Met63Val)	GPHN, PIGH (M63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644334	NM_004569.5(PIGH):c.180+6G>A	GPHN, LOC130055900 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3045133	NM_004569.5(PIGH):c.165C>A (p.Leu55=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GLikely benign
Select item 3039267	NM_004569.5(PIGH):c.141G>T (p.Thr47=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GBenign
Select item 2304636	NM_004569.5(PIGH):c.110C>G (p.Ser37Trp)	GPHN, LOC130055900 +1 more (S37W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038313	NM_004569.5(PIGH):c.72G>A (p.Pro24=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related disorder	GBenign
Select item 2239305	NM_004569.5(PIGH):c.43C>G (p.Leu15Val)	GPHN, LOC130055900 +1 more (L15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256665	NM_004569.5(PIGH):c.23C>T (p.Ser8Leu)	GPHN, LOC130055900 +1 more (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545630	NM_004569.5(PIGH):c.1A>T (p.Met1Leu)	GPHN, LOC130055900 +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 17	GPathogenic
Select item 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684732	GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3	ARG2, PIGH +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RAD51B, RDH11 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815670	GRCh37/hg19 14q24.1(chr14:68037409-68278365)x3	VTI1B, RDH12 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815669	GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	TMEM229B, PLEKHH1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 37