USH1G[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 369224	NM_173477.5(USH1G):c.*1990A>G	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 325028	NM_173477.5(USH1G):c.*1987C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 891775	NM_173477.5(USH1G):c.*1922A>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325029	NM_173477.5(USH1G):c.1903_1905dup	USH1G	Duplication (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome	GUncertain significance
Select item 325030	NM_173477.5(USH1G):c.*1900G>C	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889341	NM_173477.5(USH1G):c.*1821C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 325031	NM_173477.5(USH1G):c.*1732C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325032	NM_173477.5(USH1G):c.*1719G>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325033	NM_173477.5(USH1G):c.*1656T>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G +1 more	GLikely benign
Select item 889342	NM_173477.5(USH1G):c.*1447C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 889343	NM_173477.5(USH1G):c.*1376G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325034	NM_173477.5(USH1G):c.*1303C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 325035	NM_173477.5(USH1G):c.*1224A>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G +1 more	GLikely benign
Select item 890030	NM_173477.5(USH1G):c.*1191G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325036	NM_173477.5(USH1G):c.*1168TG[8]	USH1G	Microsatellite (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome	GUncertain significance
Select item 325037	NM_173477.5(USH1G):c.*1168TG[6]	USH1G	Microsatellite (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome	GLikely benign
Select item 890031	NM_173477.5(USH1G):c.*1174T>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325038	NM_173477.5(USH1G):c.*1150TG[5]	USH1G	Microsatellite (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome	GUncertain significance
Select item 890032	NM_173477.5(USH1G):c.*1154T>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 890033	NM_173477.5(USH1G):c.*1130T>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325039	NM_173477.5(USH1G):c.*1119G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 890034	NM_173477.5(USH1G):c.*1112C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GBenign
Select item 890035	NM_173477.5(USH1G):c.*1098T>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 325040	NM_173477.5(USH1G):c.*1093=	USH1G	Single nucleotide variant (no sequence alteration)	Usher syndrome type 1G +1 more	GLikely benign
Select item 325041	NM_173477.5(USH1G):c.*1053G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 891585	NM_173477.5(USH1G):c.*1052C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325042	NM_173477.5(USH1G):c.*1018G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 891586	NM_173477.5(USH1G):c.*940C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GBenign
Select item 891587	NM_173477.5(USH1G):c.*831C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325043	NM_173477.5(USH1G):c.*809C>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 891588	NM_173477.5(USH1G):c.*776G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 891841	NM_173477.5(USH1G):c.*704G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 891842	NM_173477.5(USH1G):c.*680C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325044	NM_173477.5(USH1G):c.*571T>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G +1 more	GLikely benign
Select item 891843	NM_173477.5(USH1G):c.*567C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325045	NM_173477.5(USH1G):c.*553A>C	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 325046	NM_173477.5(USH1G):c.*498G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 891844	NM_173477.5(USH1G):c.*482C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325047	NM_173477.5(USH1G):c.*371=	USH1G	Deletion (no sequence alteration)	Retinitis pigmentosa-deafness syndrome	GBenign
Select item 325048	NM_173477.5(USH1G):c.*279G>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 889399	NM_173477.5(USH1G):c.*256C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 889400	NM_173477.5(USH1G):c.*233C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325049	NM_173477.5(USH1G):c.*202G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 889401	NM_173477.5(USH1G):c.*198T>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325050	NM_173477.5(USH1G):c.*95C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325051	NM_173477.5(USH1G):c.*63C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 325052	NM_173477.5(USH1G):c.*49C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G +1 more	GConflicting classifications of pathogenicity
Select item 1183119	NM_173477.5(USH1G):c.*3G>C	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1130680	NM_173477.5(USH1G):c.1385A>G (p.Ter462=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047120	NM_173477.5(USH1G):c.1383-3C>A	USH1G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1144529	NM_173477.5(USH1G):c.1383-4A>G	USH1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165716	NM_173477.5(USH1G):c.1383-20T>A	USH1G	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1293566	NM_173477.5(USH1G):c.1383-114T>C	USH1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190768	NM_173477.5(USH1G):c.1382+200A>T	USH1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667095	NM_173477.5(USH1G):c.1382+20G>A	USH1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027961	NM_173477.5(USH1G):c.1382+18_1382+19insCG	USH1G	Insertion (intron variant)	not provided	GLikely benign
Select item 1647685	NM_173477.5(USH1G):c.1382+19G>T	USH1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531585	NM_173477.5(USH1G):c.1382+19G>A	USH1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1082423	NM_173477.5(USH1G):c.1382+18C>T	USH1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024556	NM_173477.5(USH1G):c.1382+2_1382+3del	OTOP2, USH1G	Microsatellite (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 1471975	NM_173477.5(USH1G):c.1382+3G>A	USH1G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110269	NM_173477.5(USH1G):c.1375A>T (p.Thr459Ser)	USH1G (T356S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48127	NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)	USH1G (D458V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1960235	NM_173477.5(USH1G):c.1368G>A (p.Leu456=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3331280	NM_173477.5(USH1G):c.1364C>G (p.Ala455Gly)	USH1G (A352G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1378540	NM_173477.5(USH1G):c.1364C>T (p.Ala455Val)	USH1G (A455V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640732	NM_173477.5(USH1G):c.1362G>C (p.Pro454=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1016772	NM_173477.5(USH1G):c.1361C>T (p.Pro454Leu)	USH1G (P351L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281625	NM_173477.5(USH1G):c.1361C>G (p.Pro454Arg)	USH1G (P454R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1922924	NM_173477.5(USH1G):c.1358C>T (p.Pro453Leu)	USH1G (P350L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1223769	NM_173477.5(USH1G):c.1355G>A (p.Arg452His)	USH1G (R349H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2695082	NM_173477.5(USH1G):c.1352_1353del (p.Glu451fs)	USH1G (E348fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1378486	NM_173477.5(USH1G):c.1346C>G (p.Ala449Gly)	USH1G (A449G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594592	NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)	USH1G (R447Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1321410	NM_173477.5(USH1G):c.1339C>T (p.Arg447Trp)	USH1G (R344W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1376208	NM_173477.5(USH1G):c.1331G>T (p.Arg444Met)	USH1G (R341M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990954	NM_173477.5(USH1G):c.1326C>T (p.Ala442=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954031	NM_173477.5(USH1G):c.1325C>A (p.Ala442Asp)	USH1G (A442D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445661	NM_173477.5(USH1G):c.1324del (p.Ala442fs)	USH1G (A442fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 1371734	NM_173477.5(USH1G):c.1318_1319delinsGC (p.Leu440Ala)	USH1G (L337A +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1965276	NM_173477.5(USH1G):c.1318T>C (p.Leu440=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457000	NM_173477.5(USH1G):c.1314G>C (p.Lys438Asn)	LOC130061627, USH1G (K335N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 858745	NM_173477.5(USH1G):c.1313_1314delinsTC (p.Lys438Ile)	LOC130061627, USH1G (K438I +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2457006	NM_173477.5(USH1G):c.1313A>T (p.Lys438Met)	LOC130061627, USH1G (K335M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 287391	NM_173477.5(USH1G):c.1311del (p.Lys438fs)	LOC130061627, USH1G (K335fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1966905	NM_173477.5(USH1G):c.1306C>G (p.Arg436Gly)	LOC130061627, USH1G (R333G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1335982	NM_173477.5(USH1G):c.1306C>T (p.Arg436Ter)	LOC130061627, USH1G (R333* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 963603	NM_173477.5(USH1G):c.1306C>A (p.Arg436=)	LOC130061627, USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936210	NM_173477.5(USH1G):c.1301G>A (p.Gly434Glu)	LOC130061627, USH1G (G331E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834574	NM_173477.5(USH1G):c.1297del (p.Leu433fs)	LOC130061627, USH1G (L330fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1038482	NM_173477.5(USH1G):c.1297C>A (p.Leu433Met)	LOC130061627, USH1G (L330M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128877	NM_173477.5(USH1G):c.1280G>A (p.Arg427His)	LOC130061627, USH1G (R324H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007224	NM_173477.5(USH1G):c.1270C>G (p.Leu424Val)	USH1G, LOC130061627 (L321V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649793	NM_173477.5(USH1G):c.1258C>T (p.Leu420=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48126	NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)	USH1G (L420V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 967042	NM_173477.5(USH1G):c.1246G>A (p.Glu416Lys)	USH1G (E416K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929986	NM_173477.5(USH1G):c.1245C>T (p.Leu415=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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