SRGN[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 3322638	NM_002727.4(SRGN):c.28C>T (p.Arg10Trp)	SRGN (S3L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169987	NM_002727.4(SRGN):c.29G>A (p.Arg10Gln)	SRGN (R10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169989	NM_002727.4(SRGN):c.31C>T (p.Leu11Phe)	SRGN (L11F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710351	NM_002727.4(SRGN):c.203C>G (p.Pro68Arg)	SRGN (P68R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3169985	NM_002727.4(SRGN):c.205C>A (p.Arg69Ser)	SRGN (R69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606333	NM_002727.4(SRGN):c.249G>C (p.Leu83Phe)	SRGN (L83F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169986	NM_002727.4(SRGN):c.254G>A (p.Arg85His)	SRGN (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790085	NM_002727.4(SRGN):c.299C>T (p.Ser100Phe)	SRGN (S100F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169988	NM_002727.4(SRGN):c.301G>A (p.Gly101Ser)	SRGN (G101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735160	NM_002727.4(SRGN):c.306C>T (p.Ser102=)	SRGN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3322637	NM_002727.4(SRGN):c.372C>A (p.Asp124Glu)	SRGN (D68E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 26