ClinVar for Gene (Select 64699) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373002	NM_001256317.3(TMPRSS3):c.771C>T (p.His257=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3366256	NM_001256317.3(TMPRSS3):c.341A>G (p.Asn114Ser)	TMPRSS3 (N114S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336964	NM_001256317.3(TMPRSS3):c.371C>T (p.Ser124Leu)	TMPRSS3 (S124L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336608	NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)	TMPRSS3 (M128T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3248206	NC_000021.8:g.(?_43791362)_(43796709_?)del	TMPRSS3	Deletion	not provided	GPathogenic
Select item 3248205	NC_000021.8:g.(?_43800206)_(43815526_?)dup	TMPRSS3	Duplication	not provided	GPathogenic
Select item 3248202	NC_000021.8:g.(?_43800206)_(43805663_?)del	TMPRSS3	Deletion	not provided	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3237174	NM_001256317.3(TMPRSS3):c.782+5G>C	TMPRSS3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 3179914	NM_001256317.3(TMPRSS3):c.565T>C (p.Tyr189His)	TMPRSS3 (Y189H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179913	NM_001256317.3(TMPRSS3):c.1342G>C (p.Glu448Gln)	TMPRSS3 (E448Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179912	NM_001256317.3(TMPRSS3):c.1169C>G (p.Thr390Arg)	TMPRSS3 (T264R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066234	NM_001256317.3(TMPRSS3):c.446+41_446+44del	TMPRSS3	Microsatellite (intron variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 3062437	GRCh37/hg19 21q22.3(chr21:43799611-43825280)x1	TMPRSS3, UBASH3A	Copy number loss	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3023866	NM_001256317.3(TMPRSS3):c.21T>A (p.Pro7=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023411	NM_001256317.3(TMPRSS3):c.33C>T (p.Ala11=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022602	NM_001256317.3(TMPRSS3):c.94+15G>A	LOC126653388, TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020883	NM_001256317.3(TMPRSS3):c.572+14C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020689	NM_001256317.3(TMPRSS3):c.94+9A>G	TMPRSS3, LOC126653388	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020590	NM_001256317.3(TMPRSS3):c.446+11G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020191	NM_001256317.3(TMPRSS3):c.51G>A (p.Ser17=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019969	NM_001256317.3(TMPRSS3):c.953-16G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018931	NM_001256317.3(TMPRSS3):c.399G>A (p.Trp133Ter)	TMPRSS3 (W6* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3017257	NM_001256317.3(TMPRSS3):c.1157C>T (p.Ala386Val)	TMPRSS3 (A260V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3013842	NM_001256317.3(TMPRSS3):c.205+10A>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013592	NM_001256317.3(TMPRSS3):c.390C>T (p.Ser130=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010631	NM_001256317.3(TMPRSS3):c.952+19G>A	TMPRSS3 (C324Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3010536	NM_001256317.3(TMPRSS3):c.796A>T (p.Lys266Ter)	TMPRSS3 (K266* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3008190	NM_001256317.3(TMPRSS3):c.617-6C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006572	NM_001256317.3(TMPRSS3):c.585C>T (p.Ala195=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005895	NM_001256317.3(TMPRSS3):c.643del (p.Ser215fs)	TMPRSS3 (S215fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3005389	NM_001256317.3(TMPRSS3):c.1107C>T (p.Cys369=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005009	NM_001256317.3(TMPRSS3):c.1345-19C>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002449	NM_001256317.3(TMPRSS3):c.1203G>A (p.Gly401=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002414	NM_001256317.3(TMPRSS3):c.447-1G>C	TMPRSS3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3002220	NM_001256317.3(TMPRSS3):c.206-17T>C	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3001785	NM_001256317.3(TMPRSS3):c.1038A>T (p.Thr346=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001741	NM_001256317.3(TMPRSS3):c.810C>A (p.Ile270=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001535	NM_001256317.3(TMPRSS3):c.206-18C>T	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3000591	NM_001256317.3(TMPRSS3):c.1143C>T (p.Pro381=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000116	NM_001256317.3(TMPRSS3):c.960C>T (p.Ile320=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999992	NM_001256317.3(TMPRSS3):c.1308C>T (p.Val436=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998496	NM_001256317.3(TMPRSS3):c.205+8C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997081	NM_001256317.3(TMPRSS3):c.95-18C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996536	NM_001256317.3(TMPRSS3):c.322+13C>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996492	NM_001256317.3(TMPRSS3):c.1158G>A (p.Ala386=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995631	NM_001256317.3(TMPRSS3):c.703C>T (p.Gln235Ter)	TMPRSS3 (Q235* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2995526	NM_001256317.3(TMPRSS3):c.617-19C>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994098	NM_001256317.3(TMPRSS3):c.206-2A>G	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2993758	NM_001256317.3(TMPRSS3):c.783-19C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993482	NM_001256317.3(TMPRSS3):c.952+11G>T	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992684	NM_001256317.3(TMPRSS3):c.1007_1008del (p.Lys336fs)	TMPRSS3 (K209fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2989679	NM_001256317.3(TMPRSS3):c.952+18T>C	TMPRSS3 (C324R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2986577	NM_001256317.3(TMPRSS3):c.3G>A (p.Met1Ile)	TMPRSS3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2985664	NM_001256317.3(TMPRSS3):c.783-8C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985127	NM_001256317.3(TMPRSS3):c.1200C>T (p.Ser400=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983893	NM_001256317.3(TMPRSS3):c.573-17C>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982422	NM_001256317.3(TMPRSS3):c.1029G>C (p.Trp343Cys)	TMPRSS3 (W343C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2981760	NM_001256317.3(TMPRSS3):c.322+18C>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981328	NM_001256317.3(TMPRSS3):c.1008del (p.Val337fs)	TMPRSS3 (V210fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2980985	NM_001256317.3(TMPRSS3):c.782+17A>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980556	NM_001256317.3(TMPRSS3):c.783-16G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977768	NM_001256317.3(TMPRSS3):c.322+9A>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977711	NM_001256317.3(TMPRSS3):c.1231C>T (p.Leu411=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977534	NM_001256317.3(TMPRSS3):c.1167G>C (p.Leu389=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977180	NM_001256317.3(TMPRSS3):c.51G>T (p.Ser17=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975915	NM_001256317.3(TMPRSS3):c.1192-11C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975694	NM_001256317.3(TMPRSS3):c.447-16T>C	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973285	NM_001256317.3(TMPRSS3):c.327G>T (p.Arg109=)	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969507	NM_001256317.3(TMPRSS3):c.1049-19del	TMPRSS3	Deletion (intron variant)	not provided	GBenign
Select item 2968065	NM_001256317.3(TMPRSS3):c.205+20T>C	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967511	NM_001256317.3(TMPRSS3):c.748C>T (p.Leu250=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966763	NM_001256317.3(TMPRSS3):c.206-14C>T	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2966618	NM_001256317.3(TMPRSS3):c.1028G>A (p.Trp343Ter)	TMPRSS3 (W343* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2966412	NM_001256317.3(TMPRSS3):c.572+15G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965417	NM_001256317.3(TMPRSS3):c.1191+15C>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965030	NM_001256317.3(TMPRSS3):c.18G>T (p.Pro6=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964544	NM_001256317.3(TMPRSS3):c.1049-20C>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964325	NM_001256317.3(TMPRSS3):c.1176C>T (p.Gly392=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962610	NM_001256317.3(TMPRSS3):c.1290T>C (p.Pro430=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961376	NM_001256317.3(TMPRSS3):c.206-19C>T	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2960616	NM_001256317.3(TMPRSS3):c.66T>C (p.Asp22=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960550	NM_001256317.3(TMPRSS3):c.1344+11C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959643	NM_001256317.3(TMPRSS3):c.801A>G (p.Ser267=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959487	NM_001256317.3(TMPRSS3):c.1048+9del	TMPRSS3	Deletion (intron variant)	not provided	GLikely benign
Select item 2958351	NM_001256317.3(TMPRSS3):c.969G>T (p.Val323=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956547	NM_001256317.3(TMPRSS3):c.206-5C>G	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2955316	NM_001256317.3(TMPRSS3):c.1192-4C>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910766	NM_001256317.3(TMPRSS3):c.206-7T>C	TMPRSS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2910617	NM_001256317.3(TMPRSS3):c.1080C>T (p.Ala360=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909435	NM_001256317.3(TMPRSS3):c.135A>G (p.Pro45=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907554	NM_001256317.3(TMPRSS3):c.551T>C (p.Leu184Ser)	TMPRSS3 (L184S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2905368	NM_001256317.3(TMPRSS3):c.1152C>G (p.Leu384=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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