ClinVar for Gene (Select 10254) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323066	NM_005843.6(STAM2):c.437C>T (p.Ala146Val)	STAM2 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323065	NM_005843.6(STAM2):c.1199A>G (p.His400Arg)	STAM2 (H400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323064	NM_005843.6(STAM2):c.613C>T (p.Arg205Trp)	STAM2 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323063	NM_005843.6(STAM2):c.772A>G (p.Thr258Ala)	STAM2 (T258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170907	NM_005843.6(STAM2):c.946T>C (p.Ser316Pro)	STAM2 (S316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170906	NM_005843.6(STAM2):c.800C>T (p.Ala267Val)	STAM2 (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170905	NM_005843.6(STAM2):c.302C>T (p.Ala101Val)	STAM2 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170904	NM_005843.6(STAM2):c.260G>A (p.Arg87His)	STAM2 (R87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170903	NM_005843.6(STAM2):c.259C>T (p.Arg87Cys)	STAM2 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170902	NM_005843.6(STAM2):c.20A>G (p.Asn7Ser)	STAM2 (N7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170901	NM_005843.6(STAM2):c.1562A>C (p.Gln521Pro)	STAM2 (Q521P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170900	NM_005843.6(STAM2):c.1445G>A (p.Gly482Glu)	STAM2 (G482E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062645	GRCh37/hg19 2q23.3(chr2:151626277-154149348)x1	ARL5A, ARL6IP6 +9 more	Copy number loss	not specified	GUncertain significance
Select item 2651438	NM_005843.6(STAM2):c.1174A>G (p.Met392Val)	STAM2 (M392V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623295	NM_005843.6(STAM2):c.1019T>C (p.Ile340Thr)	STAM2 (I340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623169	NM_005843.6(STAM2):c.511G>T (p.Ala171Ser)	STAM2 (A171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524103	NM_005843.6(STAM2):c.1543C>G (p.Gln515Glu)	STAM2 (Q515E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519780	NM_005843.6(STAM2):c.705T>C (p.Ser235=)	STAM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2508032	NM_005843.6(STAM2):c.758C>T (p.Ser253Phe)	STAM2 (S253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485200	NM_005843.6(STAM2):c.128C>T (p.Ala43Val)	STAM2 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397018	NM_005843.6(STAM2):c.185C>T (p.Ala62Val)	STAM2 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395726	NM_005843.6(STAM2):c.1378A>G (p.Thr460Ala)	STAM2 (T460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378140	NM_005843.6(STAM2):c.713A>G (p.Asn238Ser)	STAM2 (N238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340275	NM_005843.6(STAM2):c.1461G>A (p.Met487Ile)	STAM2 (M487I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334258	NM_005843.6(STAM2):c.56A>G (p.Glu19Gly)	STAM2 (E19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322665	NM_005843.6(STAM2):c.840G>T (p.Glu280Asp)	STAM2 (E280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313013	NM_005843.6(STAM2):c.23C>T (p.Pro8Leu)	STAM2 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291333	NM_005843.6(STAM2):c.953A>G (p.Asp318Gly)	STAM2 (D318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267112	NM_005843.6(STAM2):c.1382A>G (p.Tyr461Cys)	STAM2 (Y461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256088	NM_005843.6(STAM2):c.988G>A (p.Gly330Ser)	STAM2 (G330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253193	NM_005843.6(STAM2):c.1453G>A (p.Val485Met)	STAM2 (V485M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243230	NM_005843.6(STAM2):c.1426G>T (p.Ala476Ser)	STAM2 (A476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237982	NM_005843.6(STAM2):c.577C>G (p.Pro193Ala)	STAM2 (P193A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220849	NM_005843.6(STAM2):c.624A>T (p.Arg208Ser)	STAM2 (R208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212910	NM_005843.6(STAM2):c.205C>A (p.Leu69Ile)	STAM2 (L69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526921	GRCh37/hg19 2q23.3(chr2:150606201-153038451)	ARL5A, CACNB4 +7 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340952	GRCh37/hg19 2q23.3(chr2:152938421-153291627)x3	CACNB4, FMNL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340137	GRCh37/hg19 2q23.3(chr2:152714755-153158301)x3	CACNB4, STAM2	Copy number gain	not provided	GUncertain significance
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51