"Ambry Genetics"[submitter] AND "RSC1A1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593190	NM_006511.3(RSC1A1):c.116C>T (p.Pro39Leu)	RSC1A1, DDI2 (P39L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266341	NM_006511.3(RSC1A1):c.185T>G (p.Phe62Cys)	DDI2, RSC1A1 (F62C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613767	NM_006511.3(RSC1A1):c.224A>G (p.Gln75Arg)	DDI2, RSC1A1 (Q75R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603930	NM_006511.3(RSC1A1):c.311T>G (p.Ile104Arg)	DDI2, RSC1A1 (I104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477467	NM_006511.3(RSC1A1):c.329T>C (p.Leu110Pro)	DDI2, RSC1A1 (L110P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511785	NM_006511.3(RSC1A1):c.347G>A (p.Arg116Lys)	DDI2, RSC1A1 (R116K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568566	NM_006511.3(RSC1A1):c.369T>G (p.Phe123Leu)	DDI2, RSC1A1 (F123L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354047	NM_006511.3(RSC1A1):c.373C>T (p.Leu125Phe)	RSC1A1, DDI2 (L125F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224399	NM_006511.3(RSC1A1):c.494C>G (p.Pro165Arg)	DDI2, RSC1A1 (P165R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247949	NM_006511.3(RSC1A1):c.551C>T (p.Ser184Leu)	RSC1A1, DDI2 (S184L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270891	NM_006511.3(RSC1A1):c.568C>A (p.Leu190Ile)	DDI2, RSC1A1 (L190I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588255	NM_006511.3(RSC1A1):c.614A>T (p.Asn205Ile)	DDI2, RSC1A1 (N205I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286195	NM_006511.3(RSC1A1):c.671A>G (p.Asn224Ser)	DDI2, RSC1A1 (N224S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253986	NM_006511.3(RSC1A1):c.728C>T (p.Ser243Leu)	DDI2, RSC1A1 (S243L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474829	NM_006511.3(RSC1A1):c.772C>G (p.Leu258Val)	DDI2, RSC1A1 (L258V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320188	NM_006511.3(RSC1A1):c.807T>A (p.Asn269Lys)	RSC1A1, DDI2 (N269K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278687	NM_006511.3(RSC1A1):c.852T>A (p.Asn284Lys)	RSC1A1, DDI2 (N284K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510190	NM_006511.3(RSC1A1):c.986A>G (p.Tyr329Cys)	DDI2, RSC1A1 (Y329C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2595565	NM_006511.3(RSC1A1):c.1003T>C (p.Cys335Arg)	DDI2, RSC1A1 (C335R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553450	NM_006511.3(RSC1A1):c.1009A>T (p.Ser337Cys)	DDI2, RSC1A1 (S337C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333879	NM_006511.3(RSC1A1):c.1033G>A (p.Ala345Thr)	RSC1A1, DDI2 (A345T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2325556	NM_006511.3(RSC1A1):c.1054A>G (p.Ile352Val)	RSC1A1, DDI2 (I352V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2355057	NM_006511.3(RSC1A1):c.1058C>T (p.Thr353Met)	RSC1A1, DDI2 (T353M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464718	NM_006511.3(RSC1A1):c.1258A>G (p.Ile420Val)	DDI2, RSC1A1 (I420V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2461700	NM_006511.3(RSC1A1):c.1292G>T (p.Gly431Val)	DDI2, RSC1A1 (G431V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2229871	NM_006511.3(RSC1A1):c.1613C>T (p.Thr538Ile)	DDI2, RSC1A1 (T538I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 26