ClinVar for Gene (Select 8833) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281738	NM_003875.3(GMPS):c.1873C>T (p.Leu625Phe)	GMPS (L625F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281737	NM_003875.3(GMPS):c.872G>A (p.Gly291Glu)	GMPS (G291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246972	NC_000003.11:g.(?_154834637)_(156272878_?)del	C3orf33, GMPS +5 more	Deletion	not provided	GUncertain significance
Select item 3100540	NM_003875.3(GMPS):c.505C>T (p.Arg169Cys)	GMPS (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100538	NM_003875.3(GMPS):c.25A>C (p.Lys9Gln)	GMPS (K9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100537	NM_003875.3(GMPS):c.1789A>G (p.Asn597Asp)	GMPS (N597D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100536	NM_003875.3(GMPS):c.1778T>C (p.Phe593Ser)	GMPS (F593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100535	NM_003875.3(GMPS):c.1765C>T (p.Arg589Cys)	GMPS (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100534	NM_003875.3(GMPS):c.1586T>C (p.Val529Ala)	GMPS (V529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100533	NM_003875.3(GMPS):c.1570C>T (p.Arg524Cys)	GMPS (R524C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100532	NM_003875.3(GMPS):c.1451A>G (p.Gln484Arg)	GMPS (Q484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100531	NM_003875.3(GMPS):c.1373A>C (p.Asp458Ala)	GMPS (D458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2622840	NM_003875.3(GMPS):c.74A>T (p.Glu25Val)	GMPS (E25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615596	NM_003875.3(GMPS):c.653C>T (p.Thr218Ile)	GMPS (T218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556161	NM_003875.3(GMPS):c.403A>G (p.Asn135Asp)	GMPS (N135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542773	NM_003875.3(GMPS):c.524C>A (p.Ala175Glu)	GMPS (A175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456936	NM_003875.3(GMPS):c.583C>T (p.Leu195Phe)	GMPS (L195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385674	NM_003875.3(GMPS):c.208C>T (p.Arg70Cys)	GMPS (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365449	NM_003875.3(GMPS):c.1028C>A (p.Thr343Asn)	GMPS (T343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345709	NM_003875.3(GMPS):c.1689A>G (p.Ile563Met)	GMPS (I563M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326288	NM_003875.3(GMPS):c.1200G>T (p.Lys400Asn)	GMPS (K400N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319350	NM_003875.3(GMPS):c.1786C>T (p.His596Tyr)	GMPS (H596Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308445	NM_003875.3(GMPS):c.977C>T (p.Thr326Met)	GMPS (T326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307612	NM_003875.3(GMPS):c.1655G>A (p.Arg552His)	GMPS (R552H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307003	NM_003875.3(GMPS):c.1696C>T (p.Pro566Ser)	GMPS (P566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296696	NM_003875.3(GMPS):c.1559A>G (p.Gln520Arg)	GMPS (Q520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286791	NM_003875.3(GMPS):c.217A>G (p.Ile73Val)	GMPS (I73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223062	NM_003875.3(GMPS):c.863A>G (p.Lys288Arg)	GMPS (K288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212217	NM_003875.3(GMPS):c.1814C>T (p.Ala605Val)	GMPS (A605V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527046	GRCh37/hg19 3q25.31(chr3:155464751-155599910)	C3orf33, GMPS +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 777587	NM_003875.3(GMPS):c.209+5A>G	GMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775920	NM_003875.3(GMPS):c.1779T>C (p.Phe593=)	GMPS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775919	NM_003875.3(GMPS):c.27+9G>T	GMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769281	NM_003875.3(GMPS):c.1583A>C (p.Tyr528Ser)	GMPS (Y528S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747068	NM_003875.3(GMPS):c.1017C>T (p.Ile339=)	GMPS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709026	NM_003875.3(GMPS):c.708G>A (p.Thr236=)	GMPS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50