CCDC191[gene] and "single gene"[properties] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2359356	NM_020817.2(CCDC191):c.2275A>G (p.Arg759Gly)	CCDC191 (R737G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264162	NM_020817.2(CCDC191):c.2244G>T (p.Leu748Phe)	CCDC191 (L748F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208798	NM_020817.2(CCDC191):c.2138G>A (p.Arg713Gln)	CCDC191 (R691Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139035	NM_020817.2(CCDC191):c.2090G>A (p.Arg697His)	CCDC191 (R675H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455188	NM_020817.2(CCDC191):c.2012G>A (p.Cys671Tyr)	CCDC191 (C671Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139033	NM_020817.2(CCDC191):c.2009A>G (p.Glu670Gly)	CCDC191 (E657G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139032	NM_020817.2(CCDC191):c.2006C>T (p.Ala669Val)	CCDC191 (A656V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334274	NM_020817.2(CCDC191):c.1967C>T (p.Pro656Leu)	CCDC191 (P643L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264163	NM_020817.2(CCDC191):c.1933A>G (p.Arg645Gly)	CCDC191 (R645G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139031	NM_020817.2(CCDC191):c.1856A>G (p.Gln619Arg)	CCDC191 (Q606R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344079	NM_020817.2(CCDC191):c.1811G>A (p.Ser604Asn)	CCDC191 (S604N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211238	NM_020817.2(CCDC191):c.1786G>T (p.Ala596Ser)	CCDC191 (A574S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248874	NM_020817.2(CCDC191):c.1735G>A (p.Glu579Lys)	CCDC191 (E557K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357693	NM_020817.2(CCDC191):c.1663C>T (p.Arg555Cys)	CCDC191 (R533C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490186	NM_020817.2(CCDC191):c.1475G>A (p.Ser492Asn)	CCDC191 (S470N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264164	NM_020817.2(CCDC191):c.1295A>T (p.Lys432Met)	CCDC191 (K419M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139029	NM_020817.2(CCDC191):c.1288A>G (p.Arg430Gly)	CCDC191 (R408G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139028	NM_020817.2(CCDC191):c.1243G>A (p.Ala415Thr)	CCDC191 (A393T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613946	NM_020817.2(CCDC191):c.1186T>C (p.Tyr396His)	CCDC191 (Y396H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139027	NM_020817.2(CCDC191):c.1161C>G (p.Asn387Lys)	CCDC191 (N387K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139045	NM_020817.2(CCDC191):c.982C>T (p.Arg328Trp)	CCDC191 (R306W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456385	NM_020817.2(CCDC191):c.902A>G (p.Glu301Gly)	CCDC191 (E279G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139043	NM_020817.2(CCDC191):c.861A>C (p.Glu287Asp)	CCDC191 (E265D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139041	NM_020817.2(CCDC191):c.796A>G (p.Thr266Ala)	CCDC191 (T244A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139040	NM_020817.2(CCDC191):c.775G>C (p.Glu259Gln)	CCDC191 (E259Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264159	NM_020817.2(CCDC191):c.697G>C (p.Glu233Gln)	CCDC191 (E211Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264158	NM_020817.2(CCDC191):c.692T>A (p.Val231Glu)	CCDC191 (V231E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310726	NM_020817.2(CCDC191):c.561T>A (p.Asp187Glu)	CCDC191 (D165E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264160	NM_020817.2(CCDC191):c.511A>G (p.Met171Val)	CCDC191 (M149V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602187	NM_020817.2(CCDC191):c.460C>A (p.Gln154Lys)	CCDC191 (Q132K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379043	NM_020817.2(CCDC191):c.446A>G (p.Glu149Gly)	CCDC191 (E127G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378941	NM_020817.2(CCDC191):c.407A>G (p.Lys136Arg)	CCDC191 (K123R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139038	NM_020817.2(CCDC191):c.362G>T (p.Ser121Ile)	CCDC191 (S99I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476696	NM_020817.2(CCDC191):c.331G>A (p.Glu111Lys)	CCDC191 (E89K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139034	NM_020817.2(CCDC191):c.200G>A (p.Ser67Asn)	CCDC191 (S54N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 35