ClinVar for Gene (Select 10948) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323101	NM_006804.4(STARD3):c.55G>A (p.Val19Met)	STARD3 (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323100	NM_006804.4(STARD3):c.598G>A (p.Gly200Ser)	STARD3 (G182S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323099	NM_006804.4(STARD3):c.236G>A (p.Arg79His)	STARD3 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3170965	NM_006804.4(STARD3):c.902T>C (p.Ile301Thr)	STARD3 (I283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170964	NM_006804.4(STARD3):c.886G>A (p.Val296Met)	STARD3 (V278M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170963	NM_006804.4(STARD3):c.871T>C (p.Cys291Arg)	STARD3 (C273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170962	NM_006804.4(STARD3):c.519C>T (p.Val173=)	STARD3 (S169F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170961	NM_006804.4(STARD3):c.40C>G (p.Arg14Gly)	STARD3 (R14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170960	NM_006804.4(STARD3):c.381G>A (p.Thr127=)	STARD3 (R123Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3170959	NM_006804.4(STARD3):c.142G>A (p.Asp48Asn)	STARD3 (D48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170958	NM_006804.4(STARD3):c.1304G>A (p.Arg435Gln)	STARD3 (R417Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170957	NM_006804.4(STARD3):c.1124C>T (p.Thr375Met)	STARD3 (T357M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170956	NM_006804.4(STARD3):c.1091G>A (p.Gly364Glu)	STARD3 (G364E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647719	NM_006804.4(STARD3):c.597C>T (p.Ser199=)	STARD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647718	NM_006804.4(STARD3):c.177C>T (p.Phe59=)	STARD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614888	NM_006804.4(STARD3):c.464C>T (p.Pro155Leu)	STARD3 (P151S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588997	NM_006804.4(STARD3):c.310T>C (p.Phe104Leu)	STARD3 (F104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555878	NM_006804.4(STARD3):c.293T>C (p.Ile98Thr)	STARD3 (I98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547780	NM_006804.4(STARD3):c.274A>G (p.Lys92Glu)	STARD3 (K92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523230	NM_006804.4(STARD3):c.715A>G (p.Ile239Val)	STARD3 (I221V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516318	NM_006804.4(STARD3):c.469G>A (p.Val157Ile)	STARD3 (V157I +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2409824	NM_006804.4(STARD3):c.737C>T (p.Thr246Met)	STARD3 (T228M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408647	NM_006804.4(STARD3):c.1178C>T (p.Ser393Leu)	STARD3 (S393L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403523	NM_006804.4(STARD3):c.41G>A (p.Arg14His)	STARD3 (R14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372629	NM_006804.4(STARD3):c.1309C>T (p.Arg437Cys)	STARD3 (R419C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363045	NM_006804.4(STARD3):c.866T>C (p.Leu289Pro)	STARD3 (L271P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356993	NM_006804.4(STARD3):c.152G>T (p.Arg51Leu)	STARD3 (R51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328913	NM_006804.4(STARD3):c.20A>T (p.Glu7Val)	STARD3 (E7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325996	NM_006804.4(STARD3):c.997G>A (p.Val333Met)	STARD3 (V315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292381	NM_006804.4(STARD3):c.559G>A (p.Ala187Thr)	STARD3 (A187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280404	NM_006804.4(STARD3):c.39G>T (p.Glu13Asp)	STARD3 (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270682	NM_006804.4(STARD3):c.1095C>G (p.Ile365Met)	STARD3 (I365M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260203	NM_006804.4(STARD3):c.235C>T (p.Arg79Cys)	STARD3 (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233936	NM_006804.4(STARD3):c.491T>G (p.Leu164Trp)	STARD3 (L146W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219504	NM_006804.4(STARD3):c.1192C>T (p.Arg398Cys)	STARD3 (R380C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46