SAMD1[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 2649409	NM_138352.3(SAMD1):c.807C>T (p.Thr269=)	SAMD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649410	NM_138352.3(SAMD1):c.663A>C (p.Pro221=)	SAMD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234186	NM_138352.3(SAMD1):c.660G>C (p.Pro220=)	SAMD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275930	NM_138352.3(SAMD1):c.99G>C (p.Glu33Asp)	LOC130063760, SAMD1 (E33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310416	NM_138352.3(SAMD1):c.86C>T (p.Pro29Leu)	LOC130063760, SAMD1 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517770	NM_138352.3(SAMD1):c.83C>A (p.Ser28Tyr)	LOC130063760, SAMD1 (S28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569513	NM_138352.3(SAMD1):c.64G>A (p.Ala22Thr)	LOC130063760, SAMD1 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386454	NM_138352.3(SAMD1):c.52A>C (p.Thr18Pro)	SAMD1 (T18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157623	NM_138352.3(SAMD1):c.50C>G (p.Thr17Ser)	SAMD1 (T17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157622	NM_138352.3(SAMD1):c.49A>C (p.Thr17Pro)	SAMD1 (T17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316067	NM_138352.3(SAMD1):c.38C>G (p.Ala13Gly)	SAMD1 (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316068	NM_138352.3(SAMD1):c.17C>G (p.Ala6Gly)	SAMD1 (A6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	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
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 27