ClinVar for Gene (Select 9061) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304287	NM_005443.5(PAPSS1):c.1630A>G (p.Lys544Glu)	PAPSS1 (K544E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304286	NM_005443.5(PAPSS1):c.1376A>C (p.Lys459Thr)	PAPSS1 (K459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304285	NM_005443.5(PAPSS1):c.1264A>C (p.Asn422His)	PAPSS1 (N422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304284	NM_005443.5(PAPSS1):c.1727A>G (p.Asp576Gly)	PAPSS1 (D576G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304283	NM_005443.5(PAPSS1):c.71G>A (p.Arg24Lys)	PAPSS1 (R24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304282	NM_005443.5(PAPSS1):c.67C>G (p.Gln23Glu)	PAPSS1 (Q23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304281	NM_005443.5(PAPSS1):c.66G>A (p.Met22Ile)	PAPSS1 (M22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304280	NM_005443.5(PAPSS1):c.1627G>T (p.Ala543Ser)	PAPSS1 (A543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304279	NM_005443.5(PAPSS1):c.1712G>A (p.Arg571His)	PAPSS1 (R571H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208516	NM_005443.5(PAPSS1):c.968G>C (p.Cys323Ser)	PAPSS1 (C323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208514	NM_005443.5(PAPSS1):c.310G>A (p.Glu104Lys)	PAPSS1 (E104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208512	NM_005443.5(PAPSS1):c.1369T>C (p.Trp457Arg)	PAPSS1 (W457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208511	NM_005443.5(PAPSS1):c.1334G>A (p.Arg445Gln)	PAPSS1 (R445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208510	NM_005443.5(PAPSS1):c.1333C>T (p.Arg445Trp)	PAPSS1 (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208508	NM_005443.5(PAPSS1):c.1019A>G (p.Asn340Ser)	PAPSS1 (N340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208507	NM_005443.5(PAPSS1):c.1015C>T (p.Arg339Cys)	PAPSS1 (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2613878	NM_005443.5(PAPSS1):c.1402C>T (p.Arg468Cys)	PAPSS1 (R468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555613	NM_005443.5(PAPSS1):c.922A>G (p.Ile308Val)	PAPSS1 (I308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547432	NM_005443.5(PAPSS1):c.1504G>A (p.Glu502Lys)	PAPSS1 (E502K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544613	NM_005443.5(PAPSS1):c.1415A>G (p.His472Arg)	PAPSS1 (H472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541738	NM_005443.5(PAPSS1):c.941A>G (p.His314Arg)	PAPSS1 (H314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520920	NM_005443.5(PAPSS1):c.713A>G (p.Tyr238Cys)	PAPSS1 (Y238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510077	NM_005443.5(PAPSS1):c.937A>G (p.Thr313Ala)	PAPSS1 (T313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505478	NM_005443.5(PAPSS1):c.286A>G (p.Asn96Asp)	PAPSS1 (N96D)	Single nucleotide variant (missense variant)	PAPSS1-related disorder	GUncertain significance
Select item 2505477	NM_005443.5(PAPSS1):c.331C>T (p.Arg111Ter)	PAPSS1 (R111*)	Single nucleotide variant (nonsense)	PAPSS1-related disorder	GUncertain significance
Select item 2492449	NM_005443.5(PAPSS1):c.867G>C (p.Gln289His)	PAPSS1 (Q289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488473	NM_005443.5(PAPSS1):c.649G>A (p.Val217Met)	PAPSS1 (V217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480108	NM_005443.5(PAPSS1):c.1390C>T (p.Pro464Ser)	PAPSS1 (P464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473222	NM_005443.5(PAPSS1):c.1672G>A (p.Val558Ile)	PAPSS1 (V558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466788	NM_005443.5(PAPSS1):c.1382A>G (p.Asp461Gly)	PAPSS1 (D461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462752	NM_005443.5(PAPSS1):c.1174G>A (p.Gly392Ser)	PAPSS1 (G392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402774	NM_005443.5(PAPSS1):c.1228A>G (p.Met410Val)	PAPSS1 (M410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377190	NM_005443.5(PAPSS1):c.1787G>A (p.Arg596Gln)	PAPSS1 (R596Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359830	NM_005443.5(PAPSS1):c.1327G>A (p.Gly443Ser)	PAPSS1 (G443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347742	NM_005443.5(PAPSS1):c.964G>A (p.Gly322Ser)	PAPSS1 (G322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340376	NM_005443.5(PAPSS1):c.1000C>T (p.Arg334Cys)	PAPSS1 (R334C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332070	NM_005443.5(PAPSS1):c.1747T>C (p.Phe583Leu)	PAPSS1 (F583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331228	NM_005443.5(PAPSS1):c.998G>A (p.Arg333His)	PAPSS1 (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328095	NM_005443.5(PAPSS1):c.704A>G (p.Lys235Arg)	PAPSS1 (K235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326616	NM_005443.5(PAPSS1):c.1855A>C (p.Lys619Gln)	PAPSS1 (K619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304226	NM_005443.5(PAPSS1):c.1823C>T (p.Pro608Leu)	PAPSS1 (P608L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303279	NM_005443.5(PAPSS1):c.1588C>A (p.Pro530Thr)	PAPSS1 (P530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301983	NM_005443.5(PAPSS1):c.1445A>C (p.Asn482Thr)	PAPSS1 (N482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301750	NM_005443.5(PAPSS1):c.943G>C (p.Glu315Gln)	PAPSS1 (E315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297203	NM_005443.5(PAPSS1):c.1151T>G (p.Leu384Trp)	PAPSS1 (L384W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295903	NM_005443.5(PAPSS1):c.1801C>A (p.Pro601Thr)	PAPSS1 (P601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290401	NM_005443.5(PAPSS1):c.1413G>C (p.Gln471His)	PAPSS1 (Q471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218126	NM_005443.5(PAPSS1):c.1864G>A (p.Glu622Lys)	PAPSS1 (E622K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340787	GRCh37/hg19 4q25(chr4:108348717-108585081)x3	PAPSS1	Copy number gain	not provided	GLikely benign
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 684559	Single allele	CYP2U1, HADH +3 more	Duplication	not provided	Gnot provided
Select item 562953	GRCh37/hg19 4q24-25(chr4:106582279-108557118)x1	NPNT, DKK2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 148998	GRCh38/hg38 4q25(chr4:107201546-107840495)x3	LOC102725220, LOC123477799 +7 more	Copy number gain	See cases	GLikely benign
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63