ClinVar for Gene (Select 197257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381194	NM_194436.3(LDHD):c.1294dup (p.Ala432fs)	LDHD (A432fs +1 more)	Duplication (frameshift variant)	Lactic aciduria due to D-lactic acid	GPathogenic
Select item 3381193	NM_194436.3(LDHD):c.469+1dup	LDHD	Duplication (splice donor variant)	Lactic aciduria due to D-lactic acid	GPathogenic
Select item 3381192	NM_194436.3(LDHD):c.683C>T (p.Thr228Met)	LDHD (T251M +1 more)	Single nucleotide variant (missense variant)	Lactic aciduria due to D-lactic acid	GPathogenic
Select item 3381191	c.206T-C (rs1035398551)	LDHD	Single nucleotide variant	Lactic aciduria due to D-lactic acid	GPathogenic
Select item 3376153	NM_194436.3(LDHD):c.561_562del (p.Leu188fs)	LDHD (L188fs)	Deletion (frameshift variant)	Lactic aciduria due to D-lactic acid	GLikely pathogenic
Select item 3353862	NM_194436.3(LDHD):c.642C>T (p.Ala214=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GLikely benign
Select item 3290383	NM_194436.3(LDHD):c.760C>T (p.Pro254Ser)	LDHD (P254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290382	NM_194436.3(LDHD):c.478G>A (p.Ala160Thr)	LDHD (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290381	NM_194436.3(LDHD):c.967G>T (p.Val323Phe)	LDHD (V346F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290380	NM_194436.3(LDHD):c.431A>G (p.Asn144Ser)	LDHD (N144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290379	NM_194436.3(LDHD):c.1040G>A (p.Arg347Gln)	LDHD (R347Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290378	NM_194436.3(LDHD):c.1189G>A (p.Gly397Arg)	LDHD (G397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118258	NM_194436.3(LDHD):c.712C>T (p.Arg238Cys)	LDHD (R238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118257	NM_194436.3(LDHD):c.586G>A (p.Asp196Asn)	LDHD (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118256	NM_194436.3(LDHD):c.53A>C (p.Tyr18Ser)	LDHD (Y18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118255	NM_194436.3(LDHD):c.539A>T (p.Tyr180Phe)	LDHD (Y180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118254	NM_194436.3(LDHD):c.1291C>T (p.Arg431Trp)	LDHD (R431W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118253	NM_194436.3(LDHD):c.1291C>G (p.Arg431Gly)	LDHD (R431G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118252	NM_194436.3(LDHD):c.1245C>T (p.Ala415=)	LDHD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3118251	NM_194436.3(LDHD):c.1244C>T (p.Ala415Val)	LDHD (A415V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118250	NM_194436.3(LDHD):c.1204G>A (p.Gly402Ser)	LDHD (G425S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118249	NM_194436.3(LDHD):c.1189G>C (p.Gly397Arg)	LDHD (G420R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118248	NM_194436.3(LDHD):c.1168G>A (p.Gly390Arg)	LDHD (G390R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118246	NM_194436.3(LDHD):c.1093T>C (p.Ser365Pro)	LDHD (S365P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118245	NM_194436.3(LDHD):c.1018C>G (p.Arg340Gly)	LDHD (R363G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118244	NM_194436.3(LDHD):c.978C>G (p.Asn326Lys)	LDHD (N349K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3057222	NM_194436.3(LDHD):c.629+6C>T	LDHD	Single nucleotide variant (intron variant)	LDHD-related disorder	GBenign
Select item 3051696	NM_194436.3(LDHD):c.666C>T (p.Phe222=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GLikely benign
Select item 3043012	NM_194436.3(LDHD):c.678G>A (p.Glu226=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GLikely benign
Select item 3040166	NM_194436.3(LDHD):c.72+5C>T	LDHD	Single nucleotide variant (intron variant)	LDHD-related disorder	GBenign
Select item 3039202	NM_194436.3(LDHD):c.738A>G (p.Thr246=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GBenign
Select item 2689365	NM_194436.3(LDHD):c.395_396del (p.Val132fs)	LDHD (V132fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2546341	NM_194436.3(LDHD):c.1243G>A (p.Ala415Thr)	LDHD (A415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522916	NM_194436.3(LDHD):c.25A>G (p.Thr9Ala)	LDHD (T9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512542	NM_194436.3(LDHD):c.1336G>A (p.Gly446Arg)	LDHD (G469R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479723	NM_194436.3(LDHD):c.1138G>A (p.Val380Met)	LDHD (V380M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466201	NM_194436.3(LDHD):c.511G>C (p.Gly171Arg)	LDHD (G171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2404975	NM_194436.3(LDHD):c.953G>A (p.Arg318His)	LDHD (R341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402331	NM_194436.3(LDHD):c.614G>T (p.Arg205Leu)	LDHD (R205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387932	NM_194436.3(LDHD):c.1072C>T (p.Arg358Trp)	LDHD (R381W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361357	NM_194436.3(LDHD):c.332G>A (p.Gly111Asp)	LDHD (G111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358662	NM_194436.3(LDHD):c.812T>C (p.Val271Ala)	LDHD (V294A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344199	NM_194436.3(LDHD):c.1397G>A (p.Arg466Gln)	LDHD (R466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343386	NM_194436.3(LDHD):c.1352A>C (p.Gln451Pro)	LDHD (Q451P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337807	NM_194436.3(LDHD):c.449G>A (p.Ser150Asn)	LDHD (S150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284069	NM_194436.3(LDHD):c.960G>T (p.Glu320Asp)	LDHD (E320D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263384	NM_194436.3(LDHD):c.162C>A (p.His54Gln)	LDHD (H54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255581	NM_194436.3(LDHD):c.1135G>A (p.Val379Met)	LDHD (V379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250878	NM_194436.3(LDHD):c.1333A>G (p.Ile445Val)	LDHD (I445V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226064	NM_194436.3(LDHD):c.1234C>G (p.Pro412Ala)	LDHD (P412A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217836	NM_194436.3(LDHD):c.952C>T (p.Arg318Cys)	LDHD (R341C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215281	NM_194436.3(LDHD):c.656C>T (p.Thr219Met)	LDHD (T219M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1711412	NM_194436.3(LDHD):c.622C>T (p.His208Tyr)	LDHD (H208Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1459206	NC_000016.9:g.(?_74748068)_(75513746_?)del	BCAR1, CFDP1 +9 more	Deletion	Macular corneal dystrophy	GPathogenic
Select item 979473	GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1	ZFP1, BCAR1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 872931	NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp)	LDHD (R370W +1 more)	Single nucleotide variant (missense variant)	Lactic aciduria due to D-lactic acid	GPathogenic
Select item 815833	GRCh37/hg19 16q23.1(chr16:74999819-75248871)x4	ZFP1, CTRB2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815831	GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	WDR59, NPIPB15 +12 more	Copy number loss	not provided	GUncertain significance
Select item 770257	NM_194436.3(LDHD):c.531G>C (p.Ala177=)	LDHD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770256	NM_194436.3(LDHD):c.1276G>A (p.Glu426Lys)	LDHD (E449K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768794	NM_194436.3(LDHD):c.470-10C>T	LDHD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768793	NM_194436.3(LDHD):c.1260G>C (p.Arg420Ser)	LDHD (R420S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720511	NM_194436.3(LDHD):c.474A>G (p.Pro158=)	LDHD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 586969	NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)	LDHD (T463M +1 more)	Single nucleotide variant (missense variant)	Lactic aciduria due to D-lactic acid	GLikely pathogenic
Select item 586968	NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)	LDHD (W374C +1 more)	Single nucleotide variant (missense variant)	Lactic aciduria due to D-lactic acid	GLikely pathogenic
Select item 564344	GRCh37/hg19 16q23.1(chr16:75040327-75237490)x1	ZNRF1, LDHD +1 more	Copy number loss	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 146037	GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	BCAR1, CFDP1 +42 more	Copy number loss	See cases	GUncertain significance
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic

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