Related gene-specific medical variations for Gene (Select 126861109) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253356	NM_021008.4(DEAF1):c.1303A>G (p.Lys435Glu)	DEAF1, LOC126861109 (K193E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234943	NM_021008.4(DEAF1):c.1338G>T (p.Glu446Asp)	DEAF1, LOC126861109 (E204D +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 3006432	NM_021008.4(DEAF1):c.1321T>C (p.Leu441=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994401	NM_021008.4(DEAF1):c.1400C>T (p.Ala467Val)	DEAF1, LOC126861109 (A225V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960630	NM_021008.4(DEAF1):c.1368A>G (p.Leu456=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958160	NM_021008.4(DEAF1):c.1503+15A>C	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900582	NM_021008.4(DEAF1):c.1382A>C (p.Asn461Thr)	DEAF1, LOC126861109 (N219T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898919	NM_021008.4(DEAF1):c.1503+5C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2893876	NM_021008.4(DEAF1):c.1289C>G (p.Pro430Arg)	DEAF1, LOC126861109 (P341R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892541	NM_021008.4(DEAF1):c.1348C>A (p.Pro450Thr)	DEAF1, LOC126861109 (P361T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870072	NM_021008.4(DEAF1):c.1269G>A (p.Leu423=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859118	NM_021008.4(DEAF1):c.1441A>G (p.Ser481Gly)	DEAF1, LOC126861109 (S239G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856912	NM_021008.4(DEAF1):c.1451G>A (p.Arg484Gln)	DEAF1, LOC126861109 (R395Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829562	NM_021008.4(DEAF1):c.1396A>T (p.Thr466Ser)	DEAF1, LOC126861109 (T224S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824761	NM_021008.4(DEAF1):c.1448A>T (p.Tyr483Phe)	DEAF1, LOC126861109 (Y394F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788054	NM_021008.4(DEAF1):c.1353G>A (p.Arg451=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782782	NM_021008.4(DEAF1):c.1355G>A (p.Ser452Asn)	DEAF1, LOC126861109 (S363N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727418	NM_021008.4(DEAF1):c.1443C>T (p.Ser481=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721648	NM_021008.4(DEAF1):c.1287A>C (p.Pro429=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696467	NM_021008.4(DEAF1):c.1256-16T>G	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2584960	NM_021008.4(DEAF1):c.1468C>T (p.Gln490Ter)	DEAF1, LOC126861109 (Q248* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability-epilepsy-extrapyramidal syndrome	GLikely pathogenic
Select item 2572936	NM_021008.4(DEAF1):c.1280C>T (p.Ala427Val)	DEAF1, LOC126861109 (A185V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446492	NM_021008.4(DEAF1):c.1490C>T (p.Ala497Val)	DEAF1, LOC126861109 (A255V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444813	NM_021008.4(DEAF1):c.1315C>G (p.Pro439Ala)	DEAF1, LOC126861109 (P197A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440732	NM_021008.4(DEAF1):c.1489G>C (p.Ala497Pro)	DEAF1, LOC126861109 (A255P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417759	NM_021008.4(DEAF1):c.1316C>G (p.Pro439Arg)	DEAF1, LOC126861109 (P197R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416603	NM_021008.4(DEAF1):c.1318G>C (p.Ala440Pro)	DEAF1, LOC126861109 (A198P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182663	NM_021008.4(DEAF1):c.1456G>A (p.Ala486Thr)	DEAF1, LOC126861109 (A486T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176220	NM_021008.4(DEAF1):c.1495C>T (p.Arg499Trp)	LOC126861109, DEAF1 (R410W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166920	NM_021008.4(DEAF1):c.1317C>T (p.Pro439=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161131	NM_021008.4(DEAF1):c.1319C>T (p.Ala440Val)	DEAF1, LOC126861109 (A440V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145309	NM_021008.4(DEAF1):c.1503+15A>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105794	NM_021008.4(DEAF1):c.1433A>G (p.Lys478Arg)	DEAF1, LOC126861109 (K389R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095078	NM_021008.4(DEAF1):c.1503+8T>C	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087278	NM_021008.4(DEAF1):c.1277T>C (p.Leu426Pro)	DEAF1, LOC126861109 (L184P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085378	NM_021008.4(DEAF1):c.1383C>A (p.Asn461Lys)	DEAF1, LOC126861109 (N219K +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2068076	NM_021008.4(DEAF1):c.1383C>T (p.Asn461=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023944	NM_021008.4(DEAF1):c.1503+1G>A	DEAF1, LOC126861109	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1996708	NM_021008.4(DEAF1):c.1387T>G (p.Leu463Val)	DEAF1, LOC126861109 (L221V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993706	NM_021008.4(DEAF1):c.1256-2_1258del	DEAF1, LOC126861109	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1973213	NM_021008.4(DEAF1):c.1352G>C (p.Arg451Pro)	DEAF1, LOC126861109 (R209P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970683	NM_021008.4(DEAF1):c.1496G>A (p.Arg499Gln)	DEAF1, LOC126861109 (R410Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960320	NM_021008.4(DEAF1):c.1493A>T (p.Glu498Val)	DEAF1, LOC126861109 (E256V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949864	NM_021008.4(DEAF1):c.1288C>T (p.Pro430Ser)	DEAF1, LOC126861109 (P188S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948225	NM_021008.4(DEAF1):c.1447T>C (p.Tyr483His)	DEAF1, LOC126861109 (Y241H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945091	NM_021008.4(DEAF1):c.1369G>C (p.Glu457Gln)	DEAF1, LOC126861109 (E215Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672137	NM_021008.4(DEAF1):c.1275G>A (p.Ala425=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669406	NM_021008.4(DEAF1):c.1482C>T (p.His494=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622655	NM_021008.4(DEAF1):c.1503+10G>A	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604938	NM_021008.4(DEAF1):c.1371A>G (p.Glu457=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603134	NM_021008.4(DEAF1):c.1350G>A (p.Pro450=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601081	NM_021008.4(DEAF1):c.1308G>A (p.Ala436=)	LOC126861109, DEAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1597431	NM_021008.4(DEAF1):c.1380C>T (p.Val460=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573602	NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr)	DEAF1, LOC126861109 (A198T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1571025	NM_021008.4(DEAF1):c.1338G>A (p.Glu446=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526313	NM_021008.4(DEAF1):c.1474A>G (p.Lys492Glu)	DEAF1, LOC126861109 (K250E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495126	NM_021008.4(DEAF1):c.1457C>G (p.Ala486Gly)	DEAF1, LOC126861109 (A397G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487853	NM_021008.4(DEAF1):c.1292C>T (p.Pro431Leu)	DEAF1, LOC126861109 (P189L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481484	NM_021008.4(DEAF1):c.1470G>C (p.Gln490His)	DEAF1, LOC126861109 (Q401H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473843	NM_021008.4(DEAF1):c.1312C>A (p.Pro438Thr)	DEAF1, LOC126861109 (P196T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1450184	NM_021008.4(DEAF1):c.1412del (p.Lys471fs)	DEAF1, LOC126861109 (K471fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1440130	NM_021008.4(DEAF1):c.1274C>T (p.Ala425Val)	DEAF1, LOC126861109 (A336V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439428	NM_021008.4(DEAF1):c.1349C>T (p.Pro450Leu)	DEAF1, LOC126861109 (P208L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1421632	NM_021008.4(DEAF1):c.1489G>A (p.Ala497Thr)	LOC126861109, DEAF1 (A408T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413315	NM_021008.4(DEAF1):c.1415C>T (p.Thr472Met)	DEAF1, LOC126861109 (T383M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412188	NM_021008.4(DEAF1):c.1352G>A (p.Arg451Gln)	DEAF1, LOC126861109 (R209Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407564	NM_021008.4(DEAF1):c.1281G>A (p.Ala427=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1370008	NM_021008.4(DEAF1):c.1470G>T (p.Gln490His)	DEAF1, LOC126861109 (Q248H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356645	NM_021008.4(DEAF1):c.1348C>T (p.Pro450Ser)	DEAF1, LOC126861109 (P208S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1353158	NM_021008.4(DEAF1):c.1382A>G (p.Asn461Ser)	DEAF1, LOC126861109 (N219S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1334354	NM_021008.4(DEAF1):c.1450C>T (p.Arg484Ter)	DEAF1, LOC126861109 (R242* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1326064	NM_021008.4(DEAF1):c.1256-17C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313286	NM_021008.4(DEAF1):c.1363T>C (p.Tyr455His)	LOC126861109, DEAF1 (Y213H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308815	NM_021008.4(DEAF1):c.1344_1345insAA (p.Glu449fs)	DEAF1, LOC126861109 (E207fs +2 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1185387	NM_021008.4(DEAF1):c.1503+37C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185386	NM_021008.4(DEAF1):c.1503+78C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1185385	NM_021008.4(DEAF1):c.1503+82C>A	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 1169181	NM_021008.4(DEAF1):c.1306G>A (p.Ala436Thr)	DEAF1, LOC126861109 (A194T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1000363	NM_021008.4(DEAF1):c.1328A>G (p.Asn443Ser)	DEAF1, LOC126861109 (N201S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985250	NM_021008.4(DEAF1):c.1503+3A>G	LOC126861109, DEAF1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 975676	NM_021008.4(DEAF1):c.1292dup (p.Thr432fs)	DEAF1, LOC126861109 (T190fs +2 more)	Duplication (frameshift variant)	Intellectual disability	GLikely benign
Select item 929105	NM_021008.4(DEAF1):c.1294A>C (p.Thr432Pro)	DEAF1, LOC126861109 (T190P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 759366	NM_021008.4(DEAF1):c.1416G>A (p.Thr472=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726152	NM_021008.4(DEAF1):c.1256-6C>T	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 585772	NM_021008.4(DEAF1):c.1488C>T (p.Asp496=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 585771	NM_021008.4(DEAF1):c.1401G>A (p.Ala467=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 497678	NM_021008.4(DEAF1):c.1396A>G (p.Thr466Ala)	DEAF1, LOC126861109 (T466A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434930	NM_021008.4(DEAF1):c.1388T>C (p.Leu463Ser)	DEAF1, LOC126861109 (L463S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434926	NM_021008.4(DEAF1):c.1320G>A (p.Ala440=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 434925	NM_021008.4(DEAF1):c.1350G>T (p.Pro450=)	DEAF1, LOC126861109	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 421884	NM_021008.4(DEAF1):c.1307C>T (p.Ala436Val)	DEAF1, LOC126861109 (A436V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 91