Related gene-specific medical variations for Gene (Select 9488) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243874	NC_000015.9:g.(?_55611449)_(55622072_?)del	PIGB	Deletion	not provided	GPathogenic
Select item 3243873	NC_000015.9:g.(?_55611449)_(55619853_?)del	PIGB	Deletion	not provided	GPathogenic
Select item 3243872	NC_000015.9:g.(?_55611449)_(55613608_?)del	PIGB	Deletion	not provided	GPathogenic
Select item 3003078	NM_004855.5(PIGB):c.159C>T (p.Arg53=)	LOC130057105, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992590	NM_004855.5(PIGB):c.18dup (p.Lys7fs)	LOC130057104, PIGB (K7fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2968289	NM_004855.5(PIGB):c.158G>A (p.Arg53His)	LOC130057105, PIGB (R53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853850	NM_004855.5(PIGB):c.37G>A (p.Gly13Arg)	LOC130057104, PIGB (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853806	NM_004855.5(PIGB):c.17G>T (p.Ser6Ile)	LOC130057104, PIGB (S6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834196	NM_004855.5(PIGB):c.1644C>T (p.Phe548=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2792079	NM_004855.5(PIGB):c.13C>T (p.Leu5=)	LOC130057104, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708094	NM_004855.5(PIGB):c.1533C>T (p.Phe511=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2580204	NM_004855.5(PIGB):c.1334A>G (p.Tyr445Cys)	PIGB (Y445C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2529519	NM_004855.5(PIGB):c.1595G>A (p.Arg532Gln)	CCPG1, DNAAF4-CCPG1 +1 more (R532Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2504134	NM_004855.5(PIGB):c.25G>A (p.Gly9Arg)	LOC130057104, PIGB (G9R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2434836	NM_004855.5(PIGB):c.1594C>T (p.Arg532Ter)	CCPG1, DNAAF4-CCPG1 +1 more (R532*)	Single nucleotide variant (non-coding transcript variant +2 more)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2434835	NM_004855.5(PIGB):c.643T>G (p.Ser215Ala)	PIGB (S215A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2434834	NM_004855.5(PIGB):c.832A>G (p.Ile278Val)	PIGB (I278V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2434833	NM_004855.5(PIGB):c.334C>G (p.Leu112Val)	PIGB (L112V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2434832	NM_004855.5(PIGB):c.996T>A (p.Tyr332Ter)	PIGB (Y332*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2291900	NM_004855.5(PIGB):c.1626del (p.Lys543fs)	CCPG1, DNAAF4-CCPG1 +1 more (K543fs)	Deletion (frameshift variant +2 more)	not specified +1 more	GUncertain significance
Select item 2196383	NM_004855.5(PIGB):c.58A>G (p.Thr20Ala)	LOC130057104, PIGB (T20A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2177615	NM_004855.5(PIGB):c.163+3G>A	LOC130057105, PIGB	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2116577	NM_004855.5(PIGB):c.40G>A (p.Gly14Ser)	LOC130057104, PIGB (G14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2099988	NM_004855.5(PIGB):c.1519-20A>G	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2098872	NM_004855.5(PIGB):c.73C>T (p.Gln25Ter)	LOC130057104, PIGB (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2089629	NM_004855.5(PIGB):c.53G>A (p.Ser18Asn)	LOC130057104, PIGB (S18N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078790	NM_004855.5(PIGB):c.8G>A (p.Arg3Lys)	LOC130057104, PIGB (R3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062947	NM_004855.5(PIGB):c.10C>T (p.Pro4Ser)	LOC130057104, PIGB (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060262	NM_004855.5(PIGB):c.1605T>C (p.Ser535=)	DNAAF4-CCPG1, CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2050320	NM_004855.5(PIGB):c.161G>A (p.Gly54Glu)	LOC130057105, PIGB (G54E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049888	NM_004855.5(PIGB):c.1624C>T (p.Arg542Trp)	PIGB, CCPG1 +1 more (R542W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2044804	NM_004855.5(PIGB):c.1630T>C (p.Leu544=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1991731	NM_004855.5(PIGB):c.9G>A (p.Arg3=)	LOC130057104, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988600	NM_004855.5(PIGB):c.1635del (p.Lys547fs)	CCPG1, DNAAF4-CCPG1 +1 more (K547fs)	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1985131	NM_004855.5(PIGB):c.1569C>A (p.Phe523Leu)	CCPG1, DNAAF4-CCPG1 +1 more (F523L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1982744	NM_004855.5(PIGB):c.38G>A (p.Gly13Glu)	LOC130057104, PIGB (G13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981196	NM_004855.5(PIGB):c.163+6T>C	LOC130057105, PIGB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1976422	NM_004855.5(PIGB):c.1618T>C (p.Tyr540His)	CCPG1, DNAAF4-CCPG1 +1 more (Y540H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1958739	NM_004855.5(PIGB):c.71T>A (p.Leu24His)	LOC130057104, PIGB (L24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958436	NM_004855.5(PIGB):c.38G>C (p.Gly13Ala)	LOC130057104, PIGB (G13A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956110	NM_004855.5(PIGB):c.1559C>A (p.Thr520Asn)	CCPG1, DNAAF4-CCPG1 +1 more (T520N)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1940919	NM_004855.5(PIGB):c.1625G>A (p.Arg542Gln)	CCPG1, DNAAF4-CCPG1 +1 more (R542Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1922974	NM_004855.5(PIGB):c.10C>G (p.Pro4Ala)	LOC130057104, PIGB (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916968	NM_004855.5(PIGB):c.24C>T (p.Cys8=)	LOC130057104, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903419	NM_004855.5(PIGB):c.163+14C>T	LOC130057105, PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634196	NM_004855.5(PIGB):c.163+12G>C	LOC130057105, PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599716	NM_004855.5(PIGB):c.155G>A (p.Arg52His)	LOC130057105, PIGB (R52H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1586179	NM_004855.5(PIGB):c.1626G>C (p.Arg542=)	PIGB, CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1577109	NM_004855.5(PIGB):c.1527C>T (p.Ser509=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1577051	NM_004855.5(PIGB):c.1572C>T (p.Phe524=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1565530	NM_004855.5(PIGB):c.1519-7C>G	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1423964	NM_004855.5(PIGB):c.1609A>T (p.Ile537Leu)	CCPG1, DNAAF4-CCPG1 +1 more (I537L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 976715	NM_004855.5(PIGB):c.1611A>G (p.Ile537Met)	CCPG1, DNAAF4-CCPG1 +1 more (I537M)	Single nucleotide variant (non-coding transcript variant +2 more)	Developmental and epileptic encephalopathy, 80 +1 more	GPathogenic/Likely pathogenic
Select item 785488	NM_004855.5(PIGB):c.1652A>C (p.Lys551Thr)	CCPG1, DNAAF4-CCPG1 +1 more (K551T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign

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Links from Gene

Items: 54