64699[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 669

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 340040	NM_001256317.3(TMPRSS3):c.*815A>G	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 897297	NM_001256317.3(TMPRSS3):c.*805T>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897298	NM_001256317.3(TMPRSS3):c.*782G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897299	NM_001256317.3(TMPRSS3):c.*777G>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897300	NM_001256317.3(TMPRSS3):c.*755G>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GUncertain significance
Select item 897301	NM_001256317.3(TMPRSS3):c.*750C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340041	NM_001256317.3(TMPRSS3):c.*692G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898462	NM_001256317.3(TMPRSS3):c.*664C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340042	NM_001256317.3(TMPRSS3):c.*578del	TMPRSS3	Deletion (3 prime UTR variant)	Hearing loss, autosomal recessive	GLikely benign
Select item 340043	NM_001256317.3(TMPRSS3):c.*576G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898463	NM_001256317.3(TMPRSS3):c.*573C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340044	NM_001256317.3(TMPRSS3):c.*540G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340045	NM_001256317.3(TMPRSS3):c.*539C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898464	NM_001256317.3(TMPRSS3):c.*493C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898465	NM_001256317.3(TMPRSS3):c.*492C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GUncertain significance
Select item 340046	NM_001256317.3(TMPRSS3):c.*477G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895473	NM_001256317.3(TMPRSS3):c.*476C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895474	NM_001256317.3(TMPRSS3):c.*429C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895475	NM_001256317.3(TMPRSS3):c.*411C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340047	NM_001256317.3(TMPRSS3):c.*409C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GLikely benign
Select item 340048	NM_001256317.3(TMPRSS3):c.*407A>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340049	NM_001256317.3(TMPRSS3):c.*402C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340050	NM_001256317.3(TMPRSS3):c.*397C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895476	NM_001256317.3(TMPRSS3):c.*334G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340051	NM_001256317.3(TMPRSS3):c.*287C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 340052	NM_001256317.3(TMPRSS3):c.*246G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GBenign/Likely benign
Select item 340053	NM_001256317.3(TMPRSS3):c.*245C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340054	NM_001256317.3(TMPRSS3):c.*206A>G	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 340055	NM_001256317.3(TMPRSS3):c.*191T>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GLikely benign
Select item 896878	NM_001256317.3(TMPRSS3):c.*189T>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 340056	NM_001256317.3(TMPRSS3):c.*177A>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340057	NM_001256317.3(TMPRSS3):c.*81C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897375	NM_001256317.3(TMPRSS3):c.*53G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46089	NM_001256317.3(TMPRSS3):c.*2G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign
Select item 1032152	NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)	TMPRSS3	Single nucleotide variant (stop lost)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2872574	NM_001256317.3(TMPRSS3):c.1350C>T (p.Asp450=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706865	NM_001256317.3(TMPRSS3):c.1345-8A>C	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559557	NM_001256317.3(TMPRSS3):c.1345-8A>G	TMPRSS3	Single nucleotide variant (intron 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 2846545	NM_001256317.3(TMPRSS3):c.1345-19C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908529	NM_001256317.3(TMPRSS3):c.1345-20G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273860	NM_001256317.3(TMPRSS3):c.1345-204C>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231404	NM_001256317.3(TMPRSS3):c.1345-244C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226276	NM_001256317.3(TMPRSS3):c.1344+128C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279174	NM_001256317.3(TMPRSS3):c.1344+116C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683348	NM_001256317.3(TMPRSS3):c.1344+37G>C	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2863408	NM_001256317.3(TMPRSS3):c.1344+17C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900512	NM_001256317.3(TMPRSS3):c.1344+12G>A	TMPRSS3	Single nucleotide variant (intron 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 897376	NM_001256317.3(TMPRSS3):c.1344+9G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897377	NM_001256317.3(TMPRSS3):c.1344+8C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 505798	NM_001256317.3(TMPRSS3):c.1344+3G>A	TMPRSS3	Single nucleotide variant (intron variant)	not specified	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 1909242	NM_001256317.3(TMPRSS3):c.1335_1339dup (p.Met447fs)	TMPRSS3 (M321fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 46104	NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)	TMPRSS3 (M448T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 2631680	NM_001256317.3(TMPRSS3):c.1333G>A (p.Glu445Lys)	TMPRSS3 (E319K +2 more)	Single nucleotide variant (missense variant)	TMPRSS3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 178547	NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=)	TMPRSS3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 2445667	NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)	TMPRSS3 (I444T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GLikely pathogenic

<< First< Prev

Page of 7