ClinVar for Gene (Select 6133) - ClinVar

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Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246708	NC_000004.11:g.(?_39408570)_(39478735_?)dup	KLB, LIAS +1 more	Duplication	not provided	GUncertain significance
Select item 3246670	NC_000004.11:g.(?_39435810)_(39478735_?)dup	KLB, LIAS +1 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 3156117	NM_000661.5(RPL9):c.575A>G (p.Glu192Gly)	RPL9 (E192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3046645	NM_000661.5(RPL9):c.-2+4A>G	LOC112939935, RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998761	NM_000661.5(RPL9):c.162+3G>A	RPL9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997655	NM_000661.5(RPL9):c.392-12C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984151	NM_000661.5(RPL9):c.472+16A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972913	NM_000661.5(RPL9):c.199C>T (p.Leu67=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970529	NM_000661.5(RPL9):c.162+19A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961452	NM_000661.5(RPL9):c.160A>G (p.Arg54Gly)	RPL9 (R54G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916697	NM_000661.5(RPL9):c.20A>G (p.Asn7Ser)	RPL9 (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909092	NM_000661.5(RPL9):c.570T>C (p.Ala190=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901181	NM_000661.5(RPL9):c.48C>T (p.Val16=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891110	NM_000661.5(RPL9):c.211C>A (p.Arg71=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2890370	NM_000661.5(RPL9):c.163-9C>G	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889264	NM_000661.5(RPL9):c.114C>T (p.Phe38=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886017	NM_000661.5(RPL9):c.72A>G (p.Thr24=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885810	NM_000661.5(RPL9):c.270C>T (p.Tyr90=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885708	NM_000661.5(RPL9):c.462T>G (p.Val154=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885300	NM_000661.5(RPL9):c.330T>G (p.Ser110=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884772	NM_000661.5(RPL9):c.163-8T>C	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884700	NM_000661.5(RPL9):c.414A>G (p.Gln138=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884694	NM_000661.5(RPL9):c.380G>A (p.Arg127Gln)	RPL9 (R127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884671	NM_000661.5(RPL9):c.71C>T (p.Thr24Ile)	RPL9 (T24I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883927	NM_000661.5(RPL9):c.259-5C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877622	NM_000661.5(RPL9):c.578A>G (p.Ter193=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862876	NM_000661.5(RPL9):c.391+8C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852650	NM_000661.5(RPL9):c.46+9C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842299	NM_000661.5(RPL9):c.258+20T>G	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828132	NM_000661.5(RPL9):c.245A>G (p.Lys82Arg)	RPL9 (K82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809476	NM_000661.5(RPL9):c.212G>C (p.Arg71Pro)	RPL9 (R71P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731731	NM_000661.5(RPL9):c.10A>G (p.Ile4Val)	RPL9 (I4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721079	NM_000661.5(RPL9):c.379C>T (p.Arg127Trp)	RPL9 (R127W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713755	NM_000661.5(RPL9):c.423A>G (p.Lys141=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2498965	GRCh37/hg19 4p14(chr4:39245868-39700010)x3	KLB, LIAS +6 more	Copy number gain	not provided	GUncertain significance
Select item 2466646	NM_000661.5(RPL9):c.564G>T (p.Gln188His)	RPL9 (Q188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464108	NM_000661.5(RPL9):c.568G>T (p.Ala190Ser)	RPL9 (A190S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2427542	NC_000004.11:g.(?_38765721)_(39478735_?)dup	FAM114A1, KLB +9 more	Duplication	not provided	GUncertain significance
Select item 2425649	NC_000004.11:g.(?_39460510)_(39460802_?)dup	LIAS, RPL9	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2423343	NC_000004.11:g.(?_39187326)_(39478735_?)dup	KLB, LIAS +3 more	Duplication	not provided	GUncertain significance
Select item 2420559	NM_000661.5(RPL9):c.283G>C (p.Val95Leu)	RPL9 (V95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389462	NM_000661.5(RPL9):c.265C>T (p.Arg89Cys)	RPL9 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301384	NM_000661.5(RPL9):c.335T>C (p.Val112Ala)	RPL9 (V112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278365	NM_000661.5(RPL9):c.167G>A (p.Arg56Gln)	RPL9 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198104	NM_000661.5(RPL9):c.207C>T (p.Thr69=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197045	NM_000661.5(RPL9):c.116A>G (p.Asn39Ser)	RPL9 (N39S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191081	NM_000661.5(RPL9):c.405A>G (p.Ser135=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179309	NM_000661.5(RPL9):c.219T>C (p.Ile73=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174725	NM_000661.5(RPL9):c.491C>T (p.Ala164Val)	RPL9 (A164V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173358	NM_000661.5(RPL9):c.114C>A (p.Phe38Leu)	RPL9 (F38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150408	NM_000661.5(RPL9):c.59T>C (p.Leu20Pro)	RPL9 (L20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090321	NM_000661.5(RPL9):c.47-11C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039467	NM_000661.5(RPL9):c.259-10_259-7del	RPL9	Microsatellite (intron variant)	not provided	GBenign
Select item 2018607	NM_000661.5(RPL9):c.391+16C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987262	NM_000661.5(RPL9):c.162+17del	RPL9	Deletion (intron variant)	not provided	GLikely benign
Select item 1951160	NM_000661.5(RPL9):c.258+16A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940591	NM_000661.5(RPL9):c.259-14T>C	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901181	NM_000661.5(RPL9):c.473-9C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1716066	NM_000661.5(RPL9):c.414A>C (p.Gln138His)	RPL9 (Q138H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	KLB, UGDH +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1340627	GRCh37/hg19 4p14(chr4:39205299-39489677)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 1300810	NC_000004.12:g.39458888T>C	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294864	NC_000004.12:g.39458870C>G	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291998	NM_000661.5(RPL9):c.258+175A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289596	NM_000661.5(RPL9):c.162+90A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289405	NM_000661.5(RPL9):c.391+169A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273476	NM_000661.5(RPL9):c.392-71A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268644	NM_000661.5(RPL9):c.391+155_391+156insC	RPL9	Insertion (intron variant)	not provided	GBenign
Select item 1265779	NM_000661.5(RPL9):c.366T>C (p.Tyr122=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1264177	NM_000661.5(RPL9):c.472+92C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244504	NM_000661.5(RPL9):c.-1-146_-1-145del	RPL9	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1242166	NC_000004.12:g.39458708G>A	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235523	NM_000661.5(RPL9):c.391+16C>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224751	NC_000004.12:g.39458732C>G	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222538	NM_000661.5(RPL9):c.258+52C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204365	NC_000004.12:g.39458793C>A	RPL9, LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1010437	NC_000004.11:g.(?_39459814)_(39528725_?)dup	LIAS, RPL9 +1 more	Duplication	not provided	GUncertain significance
Select item 980663	GRCh37/hg19 4p14(chr4:39116340-40293329)x3	WDR19, UBE2K +10 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 688875	GRCh37/hg19 4p14(chr4:39433497-39565064)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 685006	GRCh37/hg19 4p14(chr4:39423077-39573377)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 393355	NM_000661.5(RPL9):c.375G>C (p.Arg125Ser)	RPL9 (R125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 153075	GRCh38/hg38 4p14(chr4:39222108-39491610)x3	KLB, LIAS +9 more	Copy number gain	See cases	GBenign
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 99