SH2D3A[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2531602	NM_005490.3(SH2D3A):c.1690G>C (p.Val564Leu)	SH2D3A (V290L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161140	NM_005490.3(SH2D3A):c.1642C>T (p.Arg548Trp)	SH2D3A (R426W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392832	NM_005490.3(SH2D3A):c.1630C>G (p.Leu544Val)	SH2D3A (L424V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412381	NM_005490.3(SH2D3A):c.1622G>A (p.Arg541Gln)	SH2D3A (R267Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161139	NM_005490.3(SH2D3A):c.1496G>C (p.Arg499Pro)	LOC130063337, SH2D3A (R225P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623108	NM_005490.3(SH2D3A):c.1487G>C (p.Arg496Pro)	LOC130063337, SH2D3A (R374P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318007	NM_005490.3(SH2D3A):c.1486C>T (p.Arg496Trp)	LOC130063337, SH2D3A (R374W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161138	NM_005490.3(SH2D3A):c.1474G>C (p.Glu492Gln)	LOC130063337, SH2D3A (E370Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340746	NM_005490.3(SH2D3A):c.1303C>T (p.Leu435Phe)	SH2D3A (L434F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406605	NM_005490.3(SH2D3A):c.1297C>G (p.Arg433Gly)	SH2D3A (R159G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301704	NM_005490.3(SH2D3A):c.1249A>G (p.Met417Val)	SH2D3A (M263V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340315	NM_005490.3(SH2D3A):c.1220C>G (p.Ala407Gly)	SH2D3A (A287G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341911	NM_005490.3(SH2D3A):c.1133T>C (p.Val378Ala)	SH2D3A (V104A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385878	NM_005490.3(SH2D3A):c.1015C>T (p.Arg339Trp)	SH2D3A (R338W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318008	NM_005490.3(SH2D3A):c.997G>A (p.Gly333Arg)	SH2D3A (G51E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161145	NM_005490.3(SH2D3A):c.948C>A (p.Ser316Arg)	SH2D3A (S315R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372442	NM_005490.3(SH2D3A):c.887C>T (p.Pro296Leu)	SH2D3A (P174L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476035	NM_005490.3(SH2D3A):c.845C>T (p.Pro282Leu)	SH2D3A (P160L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301043	NM_005490.3(SH2D3A):c.824A>C (p.Gln275Pro)	SH2D3A (Q153P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161144	NM_005490.3(SH2D3A):c.784G>A (p.Glu262Lys)	SH2D3A (E262K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304124	NM_005490.3(SH2D3A):c.559G>T (p.Ala187Ser)	SH2D3A (A187S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362665	NM_005490.3(SH2D3A):c.425G>C (p.Arg142Thr)	SH2D3A (R142T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278067	NM_005490.3(SH2D3A):c.413C>G (p.Pro138Arg)	SH2D3A (P138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161143	NM_005490.3(SH2D3A):c.398C>T (p.Pro133Leu)	SH2D3A (P133L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358808	NM_005490.3(SH2D3A):c.389T>A (p.Met130Lys)	SH2D3A (M130K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301906	NM_005490.3(SH2D3A):c.364C>T (p.Arg122Cys)	SH2D3A (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318009	NM_005490.3(SH2D3A):c.328G>C (p.Val110Leu)	SH2D3A (V110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206587	NM_005490.3(SH2D3A):c.299G>A (p.Arg100His)	SH2D3A (R100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161142	NM_005490.3(SH2D3A):c.287T>G (p.Met96Arg)	SH2D3A (M96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333463	NM_005490.3(SH2D3A):c.257C>T (p.Pro86Leu)	SH2D3A (P86L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161141	NM_005490.3(SH2D3A):c.190C>T (p.Arg64Cys)	SH2D3A (R64C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517506	NM_005490.3(SH2D3A):c.167C>T (p.Ser56Leu)	SH2D3A (S56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280756	NM_005490.3(SH2D3A):c.161G>T (p.Arg54Leu)	SH2D3A (R54L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402803	NM_005490.3(SH2D3A):c.128G>A (p.Arg43His)	SH2D3A (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254417	NM_005490.3(SH2D3A):c.112C>T (p.Arg38Cys)	SH2D3A (R38C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286554	NM_005490.3(SH2D3A):c.106C>G (p.Leu36Val)	SH2D3A (L36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243677	NM_005490.3(SH2D3A):c.64C>T (p.Arg22Cys)	SH2D3A (R22C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610276	NM_005490.3(SH2D3A):c.5A>G (p.Gln2Arg)	SH2D3A (Q2R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 48