SH2D6[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 2510500	NM_001394463.1(SH2D6):c.590-87C>T	SH2D6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3161200	NM_001394463.1(SH2D6):c.590-69C>T	SH2D6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2333634	NM_001394463.1(SH2D6):c.590-51C>T	SH2D6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3161198	NM_001394463.1(SH2D6):c.646G>A (p.Glu216Lys)	SH2D6 (E216K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492331	NM_001394463.1(SH2D6):c.649G>A (p.Asp217Asn)	SH2D6 (D217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318027	NM_001394463.1(SH2D6):c.694C>T (p.Arg232Cys)	SH2D6 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318028	NM_001394463.1(SH2D6):c.703G>A (p.Val235Ile)	SH2D6 (V235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318026	NM_001394463.1(SH2D6):c.751C>T (p.Arg251Cys)	SH2D6 (R251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372499	NM_001394463.1(SH2D6):c.752G>A (p.Arg251His)	SH2D6 (R59H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277128	NM_001394463.1(SH2D6):c.781C>T (p.Pro261Ser)	SH2D6 (P261S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161199	NM_001394463.1(SH2D6):c.836G>A (p.Arg279Gln)	SH2D6 (R279Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594954	NM_001394463.1(SH2D6):c.851G>A (p.Arg284His)	SH2D6 (R284H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2215622	NM_001394463.1(SH2D6):c.869G>A (p.Arg290Gln)	SH2D6 (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490017	NM_001394463.1(SH2D6):c.884G>A (p.Arg295His)	SH2D6 (R295H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484592	NM_001394463.1(SH2D6):c.889G>A (p.Glu297Lys)	SH2D6 (E297K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161201	NM_001394463.1(SH2D6):c.914T>C (p.Met305Thr)	SH2D6 (M305T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161202	NM_001394463.1(SH2D6):c.930G>A (p.Met310Ile)	SH2D6 (M118I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335292	NM_001394463.1(SH2D6):c.964G>A (p.Gly322Ser)	SH2D6 (G130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 814278	GRCh37/hg19 2p11.2(chr2:85357332-85685465)x3	SH2D6, TCF7L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 221379	GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3	C2orf68, CAPG +9 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35