Related gene-specific medical variations for Gene (Select 388551) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 224

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381700	NM_001039213.4(CEACAM16):c.213C>G (p.Ser71Arg)	CEACAM16, CEACAM16-AS1 (S71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371178	NM_001039213.4(CEACAM16):c.582G>C (p.Glu194Asp)	CEACAM16, CEACAM16-AS1 (E194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369919	NM_001039213.4(CEACAM16):c.840C>T (p.Ile280=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368874	NM_001039213.4(CEACAM16):c.770G>T (p.Cys257Phe)	CEACAM16, CEACAM16-AS1 (C257F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365524	NM_001039213.4(CEACAM16):c.364G>C (p.Gly122Arg)	CEACAM16, CEACAM16-AS1 (G122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364848	NM_001039213.4(CEACAM16):c.178A>T (p.Ser60Cys)	CEACAM16, CEACAM16-AS1 (S60C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359927	NM_001039213.4(CEACAM16):c.1249G>A (p.Val417Met)	CEACAM16 (V417M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341011	NM_001039213.4(CEACAM16):c.896A>T (p.Lys299Met)	CEACAM16, CEACAM16-AS1 (K299M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340146	NM_001039213.4(CEACAM16):c.436C>T (p.Arg146Ter)	CEACAM16, CEACAM16-AS1 (R146*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive	GPathogenic
Select item 3337900	NM_001039213.4(CEACAM16):c.1172A>C (p.Gln391Pro)	CEACAM16, CEACAM16-AS1 (Q391P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3265652	NM_001039213.4(CEACAM16):c.369C>G (p.His123Gln)	CEACAM16, CEACAM16-AS1 (H123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265651	NM_001039213.4(CEACAM16):c.364G>A (p.Gly122Arg)	CEACAM16, CEACAM16-AS1 (G122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265649	NM_001039213.4(CEACAM16):c.783G>C (p.Glu261Asp)	CEACAM16, CEACAM16-AS1 (E261D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265648	NM_001039213.4(CEACAM16):c.974C>T (p.Pro325Leu)	CEACAM16, CEACAM16-AS1 (P325L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265647	NM_001039213.4(CEACAM16):c.148G>A (p.Ala50Thr)	CEACAM16, CEACAM16-AS1 (A50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257514	NM_001039213.4(CEACAM16):c.24G>A (p.Trp8Ter)	CEACAM16, CEACAM16-AS1 (W8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3251574	NM_001039213.4(CEACAM16):c.941-13G>T	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3250401	NM_001039213.4(CEACAM16):c.1057G>A (p.Gly353Arg)	CEACAM16, CEACAM16-AS1 (G353R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 113	GLikely pathogenic
Select item 3141797	NM_001039213.4(CEACAM16):c.649C>A (p.Leu217Met)	CEACAM16, CEACAM16-AS1 (L217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141796	NM_001039213.4(CEACAM16):c.636C>A (p.Ser212Arg)	CEACAM16, CEACAM16-AS1 (S212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141795	NM_001039213.4(CEACAM16):c.602G>T (p.Cys201Phe)	CEACAM16, CEACAM16-AS1 (C201F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141794	NM_001039213.4(CEACAM16):c.407T>C (p.Leu136Ser)	CEACAM16, CEACAM16-AS1 (L136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141793	NM_001039213.4(CEACAM16):c.1027A>G (p.Lys343Glu)	CEACAM16, CEACAM16-AS1 (K343E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075945	NM_001039213.4(CEACAM16):c.588C>T (p.Ala196=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3046704	NM_001039213.4(CEACAM16):c.855C>T (p.Ala285=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	CEACAM16-related disorder	GLikely benign
Select item 3003992	NM_001039213.4(CEACAM16):c.661+20_661+21del	CEACAM16, CEACAM16-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2997480	NM_001039213.4(CEACAM16):c.1268-18G>T	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996023	NM_001039213.4(CEACAM16):c.708A>G (p.Thr236=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989673	NM_001039213.4(CEACAM16):c.523C>G (p.Leu175Val)	CEACAM16, CEACAM16-AS1 (L175V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978698	NM_001039213.4(CEACAM16):c.987G>A (p.Thr329=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965934	NM_001039213.4(CEACAM16):c.478G>A (p.Ala160Thr)	CEACAM16, CEACAM16-AS1 (A160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959943	NM_001039213.4(CEACAM16):c.312C>T (p.Gly104=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2957483	NM_001039213.4(CEACAM16):c.546C>A (p.Asp182Glu)	CEACAM16, CEACAM16-AS1 (D182E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904293	NM_001039213.4(CEACAM16):c.516C>T (p.Pro172=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894771	NM_001039213.4(CEACAM16):c.1154A>C (p.Asn385Thr)	CEACAM16, CEACAM16-AS1 (N385T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879008	NM_001039213.4(CEACAM16):c.1010C>T (p.Thr337Ile)	CEACAM16, CEACAM16-AS1 (T337I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868702	NM_001039213.4(CEACAM16):c.1267+19G>A	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856290	NM_001039213.4(CEACAM16):c.727_730dup (p.Phe244Ter)	CEACAM16, CEACAM16-AS1 (F244*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2847079	NM_001039213.4(CEACAM16):c.228T>G (p.Thr76=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781245	NM_001039213.4(CEACAM16):c.1078C>A (p.Arg360=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776573	NM_001039213.4(CEACAM16):c.1013T>G (p.Val338Gly)	CEACAM16, CEACAM16-AS1 (V338G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723153	NM_001039213.4(CEACAM16):c.477C>T (p.Thr159=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713030	NM_001039213.4(CEACAM16):c.526C>T (p.Arg176Cys)	CEACAM16, CEACAM16-AS1 (R176C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683506	NM_001039213.4(CEACAM16):c.1018G>A (p.Gly340Ser)	CEACAM16-AS1, CEACAM16 (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683505	NM_001039213.4(CEACAM16):c.828C>G (p.Asp276Glu)	CEACAM16, CEACAM16-AS1 (D276E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672774	NM_001039213.4(CEACAM16):c.250C>T (p.Arg84Trp)	CEACAM16, CEACAM16-AS1 (R84W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662750	NM_001039213.4(CEACAM16):c.1166T>C (p.Leu389Ser)	CEACAM16, CEACAM16-AS1 (L389S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571993	NM_001039213.4(CEACAM16):c.1123G>A (p.Ala375Thr)	CEACAM16, CEACAM16-AS1 (A375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539319	NM_001039213.4(CEACAM16):c.637G>A (p.Glu213Lys)	CEACAM16, CEACAM16-AS1 (E213K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499804	NM_001039213.4(CEACAM16):c.577C>T (p.Arg193Trp)	CEACAM16, CEACAM16-AS1 (R193W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2493764	NM_001039213.4(CEACAM16):c.956C>T (p.Thr319Met)	CEACAM16, CEACAM16-AS1 (T319M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2491596	NM_001039213.4(CEACAM16):c.959T>C (p.Met320Thr)	CEACAM16, CEACAM16-AS1 (M320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461940	NM_001039213.4(CEACAM16):c.437G>A (p.Arg146Gln)	CEACAM16, CEACAM16-AS1 (R146Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430595	NM_001039213.4(CEACAM16):c.421G>C (p.Ala141Pro)	CEACAM16, CEACAM16-AS1 (A141P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2339713	NM_001039213.4(CEACAM16):c.737C>T (p.Thr246Met)	CEACAM16, CEACAM16-AS1 (T246M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294554	NM_001039213.4(CEACAM16):c.1199G>A (p.Arg400His)	CEACAM16, CEACAM16-AS1 (R400H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2217758	NM_001039213.4(CEACAM16):c.175C>T (p.Leu59Phe)	CEACAM16, CEACAM16-AS1 (L59F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214521	NM_001039213.4(CEACAM16):c.1216G>A (p.Val406Ile)	CEACAM16, CEACAM16-AS1 (V406I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201722	NM_001039213.4(CEACAM16):c.281A>T (p.Asp94Val)	CEACAM16, CEACAM16-AS1 (D94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190025	NM_001039213.4(CEACAM16):c.567T>C (p.His189=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138305	NM_001039213.4(CEACAM16):c.859del (p.Gln287fs)	CEACAM16, CEACAM16-AS1 (Q287fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2090750	NM_001039213.4(CEACAM16):c.648C>A (p.Asn216Lys)	CEACAM16, CEACAM16-AS1 (N216K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075162	NM_001039213.4(CEACAM16):c.631C>T (p.Arg211Cys)	CEACAM16, CEACAM16-AS1 (R211C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069328	NM_001039213.4(CEACAM16):c.662T>A (p.Phe221Tyr)	CEACAM16, CEACAM16-AS1 (F221Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2069231	NM_001039213.4(CEACAM16):c.370G>A (p.Val124Met)	CEACAM16, CEACAM16-AS1 (V124M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062292	NM_001039213.4(CEACAM16):c.1198_1243del (p.Arg400fs)	CEACAM16, CEACAM16-AS1 (R400fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2049446	NM_001039213.4(CEACAM16):c.475A>G (p.Thr159Ala)	CEACAM16, CEACAM16-AS1 (T159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046528	NM_001039213.4(CEACAM16):c.370G>C (p.Val124Leu)	CEACAM16, CEACAM16-AS1 (V124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981180	NM_001039213.4(CEACAM16):c.1114G>A (p.Ala372Thr)	CEACAM16, CEACAM16-AS1 (A372T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972312	NM_001039213.4(CEACAM16):c.884C>T (p.Ala295Val)	CEACAM16, CEACAM16-AS1 (A295V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967829	NM_001039213.4(CEACAM16):c.1124C>A (p.Ala375Glu)	CEACAM16, CEACAM16-AS1 (A375E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928909	NM_001039213.4(CEACAM16):c.502G>A (p.Gly168Ser)	CEACAM16, CEACAM16-AS1 (G168S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723650	NM_001039213.4(CEACAM16):c.655G>C (p.Val219Leu)	CEACAM16, CEACAM16-AS1 (V219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723549	NM_001039213.4(CEACAM16):c.319A>G (p.Ile107Val)	CEACAM16, CEACAM16-AS1 (I107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699882	NM_001039213.4(CEACAM16):c.262C>T (p.Arg88Cys)	CEACAM16, CEACAM16-AS1 (R88C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698517	NM_001039213.4(CEACAM16):c.623G>A (p.Ser208Asn)	CEACAM16, CEACAM16-AS1 (S208N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698333	NM_001039213.4(CEACAM16):c.196G>A (p.Ala66Thr)	CEACAM16, CEACAM16-AS1 (A66T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695842	NM_001039213.4(CEACAM16):c.549C>T (p.Gly183=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1658446	NM_001039213.4(CEACAM16):c.219C>T (p.Gly73=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1653234	NM_001039213.4(CEACAM16):c.1098G>A (p.Pro366=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647004	NM_001039213.4(CEACAM16):c.941-18C>T	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606107	NM_001039213.4(CEACAM16):c.741C>G (p.Ser247=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601748	NM_001039213.4(CEACAM16):c.1089C>T (p.Ser363=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1588755	NM_001039213.4(CEACAM16):c.237G>A (p.Pro79=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571692	NM_001039213.4(CEACAM16):c.351C>T (p.Thr117=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509325	NM_001039213.4(CEACAM16):c.999C>A (p.Asp333Glu)	CEACAM16, CEACAM16-AS1 (D333E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509130	NM_001039213.4(CEACAM16):c.76C>G (p.Leu26Val)	CEACAM16, CEACAM16-AS1 (L26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507670	NM_001039213.4(CEACAM16):c.1124C>T (p.Ala375Val)	CEACAM16, CEACAM16-AS1 (A375V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1496986	NM_001039213.4(CEACAM16):c.82C>G (p.Pro28Ala)	CEACAM16, CEACAM16-AS1 (P28A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484989	NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu)	CEACAM16, CEACAM16-AS1 (P366L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B +1 more	GConflicting classifications of pathogenicity
Select item 1474392	NM_001039213.4(CEACAM16):c.91C>A (p.Pro31Thr)	CEACAM16, CEACAM16-AS1 (P31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473588	NM_001039213.4(CEACAM16):c.664G>T (p.Gly222Cys)	CEACAM16, CEACAM16-AS1 (G222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471149	NM_001039213.4(CEACAM16):c.591C>T (p.Gly197=)	CEACAM16-AS1, CEACAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456341	NM_001039213.4(CEACAM16):c.994C>T (p.Gln332Ter)	CEACAM16, CEACAM16-AS1 (Q332*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1448819	NM_001039213.4(CEACAM16):c.1268C>T (p.Pro423Leu)	CEACAM16, CEACAM16-AS1 (P423L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445916	NM_001039213.4(CEACAM16):c.1097C>G (p.Pro366Arg)	CEACAM16, CEACAM16-AS1 (P366R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445558	NM_001039213.4(CEACAM16):c.134C>T (p.Ser45Leu)	CEACAM16, CEACAM16-AS1 (S45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435905	NM_001039213.4(CEACAM16):c.672G>A (p.Glu224=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435099	NM_001039213.4(CEACAM16):c.674G>A (p.Arg225His)	CEACAM16, CEACAM16-AS1 (R225H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402794	NM_001039213.4(CEACAM16):c.880A>G (p.Ile294Val)	CEACAM16, CEACAM16-AS1 (I294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3