ClinVar for MedGen (Select 339683) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445662	NM_173477.5(USH1G):c.85dup (p.Asp29fs)	USH1G (D29fs)	Duplication (5 prime UTR variant +1 more)	Usher syndrome type 1G	GPathogenic
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 1687494	NM_173477.5(USH1G):c.22G>C (p.Ala8Pro)	USH1G (A8P)	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1G	GUncertain significance
Select item 1323745	NM_173477.5(USH1G):c.711del (p.Arg238fs)	USH1G (R135fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 1323744	NM_173477.5(USH1G):c.387dup (p.Lys130fs)	USH1G (K130fs +1 more)	Duplication (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 1254706	NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)	USH1G (W64*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1G +1 more	GPathogenic/Likely pathogenic
Select item 1023449	NM_173477.5(USH1G):c.164+5G>A	USH1G	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 935926	NM_173477.5(USH1G):c.859A>G (p.Thr287Ala)	USH1G (T184A +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 891906	NM_173477.5(USH1G):c.-76A>G	USH1G	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 891905	NM_173477.5(USH1G):c.126T>C (p.His42=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1G +1 more	GConflicting classifications of pathogenicity
Select item 891904	NM_173477.5(USH1G):c.327C>T (p.Gly109=)	USH1G	Single nucleotide variant (synonymous variant)	Usher syndrome type 1G +1 more	GConflicting classifications of pathogenicity
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 891843	NM_173477.5(USH1G):c.*567C>G	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 891841	NM_173477.5(USH1G):c.*704G>A	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 891588	NM_173477.5(USH1G):c.*776G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
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 891586	NM_173477.5(USH1G):c.*940C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GBenign
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 890666	NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)	USH1G (E39Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 890085	NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)	USH1G (L278S +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G	GUncertain significance
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 890034	NM_173477.5(USH1G):c.*1112C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GBenign
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 890032	NM_173477.5(USH1G):c.*1154T>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
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 890030	NM_173477.5(USH1G):c.*1191G>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 889400	NM_173477.5(USH1G):c.*233C>G	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 889343	NM_173477.5(USH1G):c.*1376G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
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 889341	NM_173477.5(USH1G):c.*1821C>G	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 856259	NM_173477.5(USH1G):c.1004dup (p.Leu336fs)	USH1G (L233fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 852631	NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)	USH1G (D353N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 850726	NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)	USH1G (G109A +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 631786	NM_173477.5(USH1G):c.644del (p.Lys215fs)	USH1G (K112fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1G	GUncertain significance
Select item 627491	NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr)	USH1G (D354Y +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G	GPathogenic
Select item 560918	NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)	USH1G (E171* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1G	GPathogenic
Select item 513512	NM_173477.5(USH1G):c.1170C>T (p.Ser390=)	USH1G	Single nucleotide variant (synonymous variant)	Usher syndrome type 1G +1 more	GConflicting classifications of pathogenicity
Select item 325060	NM_173477.5(USH1G):c.-173G>C	USH1G	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325059	NM_173477.5(USH1G):c.344G>A (p.Arg115His)	USH1G (R115H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G	GUncertain significance
Select item 325058	NM_173477.5(USH1G):c.348C>T (p.Tyr116=)	USH1G	Single nucleotide variant (synonymous variant)	Usher syndrome type 1G	GUncertain significance
Select item 325057	NM_173477.5(USH1G):c.436C>T (p.Arg146Cys)	USH1G (R146C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 325056	NM_173477.5(USH1G):c.474C>G (p.His158Gln)	USH1G (H158Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G	GUncertain significance
Select item 325055	NM_173477.5(USH1G):c.478C>G (p.Arg160Gly)	USH1G (R160G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 325054	NM_173477.5(USH1G):c.563G>T (p.Arg188Leu)	USH1G (R188L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 325053	NM_173477.5(USH1G):c.753C>T (p.Ser251=)	USH1G	Single nucleotide variant (synonymous variant)	Usher syndrome type 1G	GUncertain significance
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 325051	NM_173477.5(USH1G):c.*63C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 325049	NM_173477.5(USH1G):c.*202G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
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 325046	NM_173477.5(USH1G):c.*498G>A	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)	Usher syndrome type 1G	GLikely benign
Select item 325044	NM_173477.5(USH1G):c.*571T>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
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 325042	NM_173477.5(USH1G):c.*1018G>A	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
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 325040	NM_173477.5(USH1G):c.*1093=	USH1G	Single nucleotide variant (no sequence alteration)	Usher syndrome type 1G	GLikely benign
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 325035	NM_173477.5(USH1G):c.*1224A>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 325034	NM_173477.5(USH1G):c.*1303C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
Select item 325033	NM_173477.5(USH1G):c.*1656T>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GLikely benign
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 325031	NM_173477.5(USH1G):c.*1732C>T	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GUncertain significance
Select item 325030	NM_173477.5(USH1G):c.*1900G>C	USH1G	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1G	GBenign
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 287391	NM_173477.5(USH1G):c.1311del (p.Lys438fs)	LOC130061627, USH1G (K335fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 283166	NM_173477.5(USH1G):c.-2C>T	USH1G	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 229611	NM_173477.5(USH1G):c.-8C>T	USH1G	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1G +1 more	GUncertain significance
Select item 178968	NM_173477.5(USH1G):c.1152C>T (p.Asp384=)	USH1G	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178570	NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)	USH1G (D279E +1 more)	Single nucleotide variant (missense variant)	USH1G-related condition +3 more	GConflicting classifications of pathogenicity
Select item 65739	NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)	PCDH15 (E110fs +2 more)	Duplication (frameshift variant)	Usher syndrome type 1G	Gnot provided
Select item 48139	NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)	USH1G (P28L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48134	NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)	USH1G (R189Q +1 more)	Single nucleotide variant (missense variant)	USH1G-related condition +3 more	GConflicting classifications of pathogenicity
Select item 48132	NM_173477.5(USH1G):c.501C>G (p.Arg167=)	USH1G	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48131	NM_173477.5(USH1G):c.424G>A (p.Glu142Lys)	USH1G (E142K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 48130	NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)	USH1G (K130E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 48127	NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)	USH1G (D458V +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 48126	NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)	USH1G (L420V +1 more)	Single nucleotide variant (missense variant)	USH1G-related condition +3 more	GConflicting classifications of pathogenicity
Select item 31577	NM_173477.5(USH1G):c.163_164+13del	USH1G	Deletion (splice donor variant)	Usher syndrome type 1G	GPathogenic
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +5 more	GPathogenic
Select item 2918	NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)	USH1G (W38*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2917	NM_173477.5(USH1G):c.394dup (p.Val132fs)	USH1G (V29fs +1 more)	Duplication (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 2916	NM_173477.5(USH1G):c.832_851del (p.Ser278fs)	USH1G (S175fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 2915	NM_173477.5(USH1G):c.186_187del (p.Ile63fs)	USH1G (I63fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1G	GPathogenic
Select item 2914	NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)	USH1G (L48P)	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1G	GPathogenic

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Items: 89