ADAM9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 150494	GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1	ADAM32, ADAM9 +79 more	Copy number loss	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
Select item 60360	GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1	ADAM18, ADAM2 +81 more	Copy number loss	See cases	GPathogenic
Select item 909350	NM_003816.3(ADAM9):c.-18C>G	ADAM9, LOC130000261	Single nucleotide variant (non-coding transcript variant +1 more)	Cone-rod dystrophy 9	GUncertain significance
Select item 1006181	NM_003816.3(ADAM9):c.5G>A (p.Gly2Glu)	LOC130000261, ADAM9 (G2E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 999527	NM_003816.3(ADAM9):c.8C>G (p.Ser3Cys)	ADAM9, LOC130000261 (S3C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804635	NM_003816.3(ADAM9):c.17_18del (p.Arg6fs)	LOC130000261, ADAM9 (R6fs)	Microsatellite (frameshift variant +1 more)	Cone-rod dystrophy	GPathogenic
Select item 1636991	NM_003816.3(ADAM9):c.15G>A (p.Ala5=)	ADAM9, LOC130000261	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1019927	NM_003816.3(ADAM9):c.22C>T (p.Pro8Ser)	ADAM9, LOC130000261 (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880457	NM_003816.3(ADAM9):c.27G>A (p.Ser9=)	ADAM9, LOC130000261	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1356684	NM_003816.3(ADAM9):c.28G>T (p.Gly10Trp)	ADAM9, LOC130000261 (G10W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1007380	NM_003816.3(ADAM9):c.29G>A (p.Gly10Glu)	ADAM9, LOC130000261 (G10E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923978	NM_003816.3(ADAM9):c.44G>C (p.Arg15Pro)	ADAM9, LOC130000261 (R15P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1160569	NM_003816.3(ADAM9):c.45G>T (p.Arg15=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 860836	NM_003816.3(ADAM9):c.56T>G (p.Leu19Trp)	ADAM9, LOC130000261 (L19W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2486380	NM_003816.3(ADAM9):c.61G>C (p.Gly21Arg)	ADAM9, LOC130000261 (G21R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270731	NM_003816.3(ADAM9):c.71G>A (p.Gly24Asp)	ADAM9, LOC130000261 (G24D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1393622	NM_003816.3(ADAM9):c.76G>C (p.Val26Leu)	ADAM9, LOC130000261 (V26L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259176	NM_003816.3(ADAM9):c.78C>A (p.Val26=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1554783	NM_003816.3(ADAM9):c.81C>T (p.Leu27=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1410733	NM_003816.3(ADAM9):c.92G>A (p.Arg31Gln)	ADAM9, LOC130000261 (R31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1044936	NM_003816.3(ADAM9):c.96A>G (p.Pro32=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1047188	NM_003816.3(ADAM9):c.97+4G>T	ADAM9, LOC130000261	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022696	NM_003816.3(ADAM9):c.97+10C>G	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804307	NM_003816.3(ADAM9):c.105A>G (p.Gln35=)	ADAM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1514827	NM_003816.3(ADAM9):c.115C>T (p.His39Tyr)	ADAM9 (H39Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1990393	NM_003816.3(ADAM9):c.138A>G (p.Ile46Met)	ADAM9 (I46M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080353	NM_003816.3(ADAM9):c.180G>A (p.Arg60=)	ADAM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2037961	NM_003816.3(ADAM9):c.195+5G>A	ADAM9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2963516	NM_003816.3(ADAM9):c.195+8A>T	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957881	NM_003816.3(ADAM9):c.195+8A>G	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903271	NM_003816.3(ADAM9):c.195+9T>C	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608502	NM_003816.3(ADAM9):c.195+9T>A	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105639	NM_003816.3(ADAM9):c.195+19G>T	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546208	NM_003816.3(ADAM9):c.196-15C>T	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136555	NM_003816.3(ADAM9):c.196-8G>A	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 373092	NM_003816.3(ADAM9):c.196-1G>A	ADAM9	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2620755	NM_003816.3(ADAM9):c.196G>A (p.Val66Ile)	ADAM9 (V66I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1367691	NM_003816.3(ADAM9):c.205G>C (p.Val69Leu)	ADAM9 (V69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1390537	NM_003816.3(ADAM9):c.206T>G (p.Val69Gly)	ADAM9 (V69G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 196366	NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys)	ADAM9 (E76K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2237184	NM_003816.3(ADAM9):c.228G>C (p.Glu76Asp)	ADAM9 (E76D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1467598	NM_003816.3(ADAM9):c.230A>G (p.His77Arg)	ADAM9 (H77R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1559916	NM_003816.3(ADAM9):c.231T>C (p.His77=)	ADAM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1425717	NM_003816.3(ADAM9):c.236T>C (p.Ile79Thr)	ADAM9 (I79T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2013020	NM_003816.3(ADAM9):c.254+1G>A	ADAM9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1263556	NM_003816.3(ADAM9):c.255-159T>G	ADAM9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2063937	NM_003816.3(ADAM9):c.255-20G>A	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133718	NM_003816.3(ADAM9):c.255-9C>G	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1148782	NM_003816.3(ADAM9):c.255-6T>C	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127639	NM_003816.3(ADAM9):c.256G>A (p.Asp86Asn)	ADAM9 (D86N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2055313	NM_003816.3(ADAM9):c.269A>G (p.Glu90Gly)	ADAM9 (E90G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 388305	NM_003816.3(ADAM9):c.280G>A (p.Val94Ile)	ADAM9 (V94I)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 9 +3 more	GConflicting classifications of pathogenicity
Select item 839526	NM_003816.3(ADAM9):c.292A>C (p.Asn98His)	ADAM9 (N98H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3146316	NM_003816.3(ADAM9):c.293A>G (p.Asn98Ser)	ADAM9 (N98S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 498893	NM_003816.3(ADAM9):c.299A>T (p.Glu100Val)	ADAM9 (E100V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3146322	NM_003816.3(ADAM9):c.310A>G (p.Ile104Val)	ADAM9 (I104V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 362923	NM_003816.3(ADAM9):c.315T>G (p.Thr105=)	ADAM9	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 9	GUncertain significance
Select item 1058006	NM_003816.3(ADAM9):c.317A>G (p.Asp106Gly)	ADAM9 (D106G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117922	NM_003816.3(ADAM9):c.320A>G (p.His107Arg)	ADAM9 (H107R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1407840	NM_003816.3(ADAM9):c.323C>T (p.Pro108Leu)	ADAM9 (P108L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 841956	NM_003816.3(ADAM9):c.326A>G (p.Asn109Ser)	ADAM9 (N109S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987969	NM_003816.3(ADAM9):c.327T>C (p.Asn109=)	ADAM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474411	NM_003816.3(ADAM9):c.328A>G (p.Ile110Val)	ADAM9 (I110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005837	NM_003816.3(ADAM9):c.333+16C>T	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115584	NM_003816.3(ADAM9):c.334-6A>G	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483968	NM_003816.3(ADAM9):c.334-5T>C	ADAM9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1429020	NM_003816.3(ADAM9):c.338A>G (p.His113Arg)	ADAM9 (H113R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 853335	NM_003816.3(ADAM9):c.349C>T (p.Arg117Trp)	ADAM9 (R117W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1006816	NM_003816.3(ADAM9):c.350G>T (p.Arg117Leu)	ADAM9 (R117L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 910312	NM_003816.3(ADAM9):c.356A>G (p.Tyr119Cys)	ADAM9 (Y119C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1593179	NM_003816.3(ADAM9):c.363G>A (p.Glu121=)	ADAM9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 969336	NM_003816.3(ADAM9):c.375T>G (p.Asn125Lys)	ADAM9 (N125K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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