Related gene-specific medical variations for Gene (Select 6248) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315526	NM_006511.3(RSC1A1):c.1564A>G (p.Lys522Glu)	DDI2, RSC1A1 (K522E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315525	NM_006511.3(RSC1A1):c.1445A>G (p.Asn482Ser)	DDI2, RSC1A1 (N482S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315524	NM_006511.3(RSC1A1):c.1001T>G (p.Leu334Arg)	DDI2, RSC1A1 (L334R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315523	NM_006511.3(RSC1A1):c.403G>A (p.Val135Ile)	DDI2, RSC1A1 (V135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315522	NM_006511.3(RSC1A1):c.1784A>G (p.His595Arg)	DDI2, RSC1A1 (H595R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315521	NM_006511.3(RSC1A1):c.824T>C (p.Ile275Thr)	DDI2, RSC1A1 (I275T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315520	NM_006511.3(RSC1A1):c.512C>T (p.Pro171Leu)	DDI2, RSC1A1 (P171L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315519	NM_006511.3(RSC1A1):c.1534A>C (p.Lys512Gln)	DDI2, RSC1A1 (K512Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156624	NM_006511.3(RSC1A1):c.952G>A (p.Glu318Lys)	DDI2, RSC1A1 (E318K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156623	NM_006511.3(RSC1A1):c.886C>T (p.Pro296Ser)	DDI2, RSC1A1 (P296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156622	NM_006511.3(RSC1A1):c.760G>C (p.Ala254Pro)	DDI2, RSC1A1 (A254P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156621	NM_006511.3(RSC1A1):c.714A>T (p.Glu238Asp)	DDI2, RSC1A1 (E238D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156620	NM_006511.3(RSC1A1):c.439C>G (p.Leu147Val)	DDI2, RSC1A1 (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156618	NM_006511.3(RSC1A1):c.238C>T (p.His80Tyr)	DDI2, RSC1A1 (H80Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156617	NM_006511.3(RSC1A1):c.1846C>T (p.Pro616Ser)	DDI2, RSC1A1 (P616S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156616	NM_006511.3(RSC1A1):c.1745G>A (p.Arg582His)	DDI2, RSC1A1 (R582H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156615	NM_006511.3(RSC1A1):c.1744C>T (p.Arg582Cys)	DDI2, RSC1A1 (R582C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156614	NM_006511.3(RSC1A1):c.1739T>G (p.Ile580Ser)	DDI2, RSC1A1 (I580S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156613	NM_006511.3(RSC1A1):c.1730T>C (p.Ile577Thr)	DDI2, RSC1A1 (I577T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156612	NM_006511.3(RSC1A1):c.1530A>C (p.Gln510His)	DDI2, RSC1A1 (Q510H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613767	NM_006511.3(RSC1A1):c.224A>G (p.Gln75Arg)	DDI2, RSC1A1 (Q75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603930	NM_006511.3(RSC1A1):c.311T>G (p.Ile104Arg)	DDI2, RSC1A1 (I104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595565	NM_006511.3(RSC1A1):c.1003T>C (p.Cys335Arg)	DDI2, RSC1A1 (C335R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593190	NM_006511.3(RSC1A1):c.116C>T (p.Pro39Leu)	DDI2, RSC1A1 (P39L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588255	NM_006511.3(RSC1A1):c.614A>T (p.Asn205Ile)	DDI2, RSC1A1 (N205I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568566	NM_006511.3(RSC1A1):c.369T>G (p.Phe123Leu)	DDI2, RSC1A1 (F123L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553450	NM_006511.3(RSC1A1):c.1009A>T (p.Ser337Cys)	DDI2, RSC1A1 (S337C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511785	NM_006511.3(RSC1A1):c.347G>A (p.Arg116Lys)	DDI2, RSC1A1 (R116K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510190	NM_006511.3(RSC1A1):c.986A>G (p.Tyr329Cys)	DDI2, RSC1A1 (Y329C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477467	NM_006511.3(RSC1A1):c.329T>C (p.Leu110Pro)	DDI2, RSC1A1 (L110P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474829	NM_006511.3(RSC1A1):c.772C>G (p.Leu258Val)	DDI2, RSC1A1 (L258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464718	NM_006511.3(RSC1A1):c.1258A>G (p.Ile420Val)	DDI2, RSC1A1 (I420V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461700	NM_006511.3(RSC1A1):c.1292G>T (p.Gly431Val)	DDI2, RSC1A1 (G431V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2355057	NM_006511.3(RSC1A1):c.1058C>T (p.Thr353Met)	DDI2, RSC1A1 (T353M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354047	NM_006511.3(RSC1A1):c.373C>T (p.Leu125Phe)	DDI2, RSC1A1 (L125F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333879	NM_006511.3(RSC1A1):c.1033G>A (p.Ala345Thr)	DDI2, RSC1A1 (A345T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325556	NM_006511.3(RSC1A1):c.1054A>G (p.Ile352Val)	DDI2, RSC1A1 (I352V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320188	NM_006511.3(RSC1A1):c.807T>A (p.Asn269Lys)	DDI2, RSC1A1 (N269K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286195	NM_006511.3(RSC1A1):c.671A>G (p.Asn224Ser)	DDI2, RSC1A1 (N224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278687	NM_006511.3(RSC1A1):c.852T>A (p.Asn284Lys)	DDI2, RSC1A1 (N284K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270891	NM_006511.3(RSC1A1):c.568C>A (p.Leu190Ile)	DDI2, RSC1A1 (L190I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266341	NM_006511.3(RSC1A1):c.185T>G (p.Phe62Cys)	DDI2, RSC1A1 (F62C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253986	NM_006511.3(RSC1A1):c.728C>T (p.Ser243Leu)	DDI2, RSC1A1 (S243L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247949	NM_006511.3(RSC1A1):c.551C>T (p.Ser184Leu)	DDI2, RSC1A1 (S184L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229871	NM_006511.3(RSC1A1):c.1613C>T (p.Thr538Ile)	DDI2, RSC1A1 (T538I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224399	NM_006511.3(RSC1A1):c.494C>G (p.Pro165Arg)	DDI2, RSC1A1 (P165R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 46