Related gene-specific medical variations for Gene (Select 23243) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124832	NM_001349278.2(ANKRD28):c.913C>T (p.Pro305Ser)	ANKRD28, BTD (P275S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124830	NM_001349278.2(ANKRD28):c.905G>A (p.Gly302Glu)	ANKRD28, BTD (G305E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124766	NM_001349278.2(ANKRD28):c.3239C>G (p.Ser1080Cys)	ANKRD28, BTD (S1050C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124746	NM_001349278.2(ANKRD28):c.2863G>T (p.Ala955Ser)	ANKRD28, BTD (A925S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124723	NM_001349278.2(ANKRD28):c.2757T>A (p.Ser919Arg)	ANKRD28, BTD (S735R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124719	NM_001349278.2(ANKRD28):c.2730T>G (p.Ser910Arg)	ANKRD28, BTD (S726R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124715	NM_001349278.2(ANKRD28):c.2639A>G (p.Asn880Ser)	ANKRD28, BTD (N696S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124708	NM_001349278.2(ANKRD28):c.2633A>C (p.Gln878Pro)	ANKRD28, BTD (Q845P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124705	NM_001349278.2(ANKRD28):c.2557G>A (p.Gly853Arg)	ANKRD28, BTD (G823R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124700	NM_001349278.2(ANKRD28):c.2548G>A (p.Asp850Asn)	ANKRD28, BTD (D820N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124699	NM_001349278.2(ANKRD28):c.2489A>G (p.Asn830Ser)	ANKRD28, BTD (N646S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124671	NM_001349278.2(ANKRD28):c.1991G>A (p.Arg664Gln)	ANKRD28, BTD (R631Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124657	NM_001349278.2(ANKRD28):c.1736C>G (p.Ala579Gly)	ANKRD28, BTD (A493G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124647	NM_001349278.2(ANKRD28):c.1624T>G (p.Ser542Ala)	ANKRD28, BTD (S542A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124641	NM_001349278.2(ANKRD28):c.1588A>T (p.Ile530Phe)	ANKRD28, BTD (I346F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124636	NM_001349278.2(ANKRD28):c.1423G>A (p.Ala475Thr)	ANKRD28, BTD (A442T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124610	NM_001349278.2(ANKRD28):c.1133G>A (p.Arg378Gln)	ANKRD28, BTD (R345Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672933	NM_001349278.2(ANKRD28):c.2605T>C (p.Leu869=)	ANKRD28, BTD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653604	NM_001349278.2(ANKRD28):c.784-656G>A	ANKRD28, BTD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653603	NM_001349278.2(ANKRD28):c.*2197C>T	ANKRD28, BTD	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2602492	NM_001349278.2(ANKRD28):c.1658T>C (p.Leu553Pro)	ANKRD28, BTD (L523P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533189	NM_001349278.2(ANKRD28):c.3134T>C (p.Leu1045Ser)	ANKRD28, BTD (L861S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526608	NM_001349278.2(ANKRD28):c.1592G>T (p.Arg531Leu)	ANKRD28, BTD (R347L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521499	NM_001349278.2(ANKRD28):c.2285T>C (p.Ile762Thr)	ANKRD28, BTD (I578T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509026	NM_001349278.2(ANKRD28):c.974A>T (p.Asn325Ile)	ANKRD28, BTD (N328I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486215	NM_001349278.2(ANKRD28):c.3181A>T (p.Ile1061Phe)	ANKRD28, BTD (I1028F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484618	NM_001349278.2(ANKRD28):c.1586G>A (p.Gly529Glu)	ANKRD28, BTD (G532E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470298	NM_001349278.2(ANKRD28):c.2447G>A (p.Gly816Glu)	ANKRD28, BTD (G786E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457386	NM_001349278.2(ANKRD28):c.1225G>T (p.Ala409Ser)	ANKRD28, BTD (A379S +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2408019	NM_001349278.2(ANKRD28):c.2837G>A (p.Arg946Lys)	ANKRD28, BTD (R762K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397298	NM_001349278.2(ANKRD28):c.3140T>C (p.Ile1047Thr)	ANKRD28, BTD (I1014T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397255	NM_001349278.2(ANKRD28):c.1798G>C (p.Val600Leu)	ANKRD28, BTD (V416L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393345	NM_001349278.2(ANKRD28):c.1363C>G (p.Leu455Val)	ANKRD28, BTD (L369V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368502	NM_001349278.2(ANKRD28):c.793C>T (p.Pro265Ser)	ANKRD28, BTD (P265S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364080	NM_001349278.2(ANKRD28):c.1918T>G (p.Leu640Val)	ANKRD28, BTD (L456V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355531	NM_001349278.2(ANKRD28):c.1271C>T (p.Ser424Leu)	ANKRD28, BTD (S338L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2343993	NM_001349278.2(ANKRD28):c.1180G>A (p.Asp394Asn)	ANKRD28, BTD (D364N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343571	NM_001349278.2(ANKRD28):c.2224T>G (p.Cys742Gly)	ANKRD28, BTD (C558G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298916	NM_001349278.2(ANKRD28):c.836A>G (p.Asn279Ser)	ANKRD28, BTD (N249S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287809	NM_001349278.2(ANKRD28):c.866T>C (p.Ile289Thr)	ANKRD28, BTD (I292T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256691	NM_001349278.2(ANKRD28):c.2300C>G (p.Ala767Gly)	ANKRD28, BTD (A767G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244901	NM_001349278.2(ANKRD28):c.1126G>A (p.Ala376Thr)	ANKRD28, BTD (A346T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236354	NM_001349278.2(ANKRD28):c.2387A>G (p.Asn796Ser)	ANKRD28, BTD (N766S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218834	NM_001349278.2(ANKRD28):c.2860G>A (p.Ala954Thr)	ANKRD28, BTD (A770T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211168	NM_001349278.2(ANKRD28):c.2211A>C (p.Gln737His)	ANKRD28, BTD (Q704H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206613	NM_001349278.2(ANKRD28):c.2234G>A (p.Arg745Gln)	ANKRD28, BTD (R715Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 46