BDH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	FBXO45, LINC00885 +110 more	Copy number gain	See cases	GUncertain significance
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	NRROS, PAK2 +109 more	Copy number loss	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 34369	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LOC129938306, LOC129938307 +107 more	Copy number loss	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 152925	GRCh38/hg38 3q29(chr3:196841258-197590173)x3	BDH1, DLG1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 152488	GRCh38/hg38 3q29(chr3:197098993-197658495)x3	BDH1, DLG1 +20 more	Copy number gain	See cases	GBenign
Select item 150891	GRCh38/hg38 3q29(chr3:197304351-197597696)x3	BDH1, LINC02012 +11 more	Copy number gain	See cases	GLikely benign
Select item 145767	GRCh38/hg38 3q29(chr3:197304419-197658495)x3	BDH1, LINC02012 +15 more	Copy number gain	See cases	GBenign
Select item 59689	GRCh38/hg38 3q29(chr3:197511726-197833102)x3	BDH1, FYTTD1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2227005	NM_203314.3(BDH1):c.1028G>A (p.Arg343His)	BDH1 (R343H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133583	NM_203314.3(BDH1):c.1018A>G (p.Ile340Val)	BDH1 (I340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615668	NM_203314.3(BDH1):c.1017G>A (p.Met339Ile)	BDH1 (M339I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052892	NM_203314.3(BDH1):c.941G>A (p.Arg314His)	BDH1 (R314H)	Single nucleotide variant (missense variant)	BDH1-related disorder	GLikely benign
Select item 2210193	NM_203314.3(BDH1):c.913G>A (p.Ala305Thr)	BDH1 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383361	NM_203314.3(BDH1):c.848A>T (p.Lys283Met)	BDH1 (K283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299959	NM_203314.3(BDH1):c.805C>T (p.Arg269Cys)	BDH1 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791966	NM_203314.3(BDH1):c.744C>T (p.Tyr248=)	BDH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330258	NM_203314.3(BDH1):c.742T>C (p.Tyr248His)	BDH1 (Y248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260731	NM_203314.3(BDH1):c.727G>A (p.Ala243Thr)	BDH1 (A243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393313	NM_203314.3(BDH1):c.703G>C (p.Val235Leu)	BDH1 (V235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715597	NM_203314.3(BDH1):c.643G>A (p.Val215Ile)	BDH1 (V215I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3133595	NM_203314.3(BDH1):c.641G>C (p.Gly214Ala)	BDH1 (G214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624392	NM_203314.3(BDH1):c.634A>C (p.Lys212Gln)	BDH1 (K212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375586	NM_203314.3(BDH1):c.626G>A (p.Cys209Tyr)	BDH1 (C209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133594	NM_203314.3(BDH1):c.613C>T (p.Arg205Cys)	BDH1 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133593	NM_203314.3(BDH1):c.608C>T (p.Pro203Leu)	BDH1 (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260734	NM_203314.3(BDH1):c.601G>A (p.Ala201Thr)	BDH1 (A201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558826	NM_203314.3(BDH1):c.587T>C (p.Met196Thr)	BDH1 (M196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260735	NM_203314.3(BDH1):c.584G>C (p.Ser195Thr)	BDH1 (S195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631871	NM_203314.3(BDH1):c.574A>G (p.Asn192Asp)	BDH1 (N192D)	Single nucleotide variant (missense variant)	BDH1-related disorder	GUncertain significance
Select item 3133592	NM_203314.3(BDH1):c.571G>A (p.Val191Ile)	BDH1 (V191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515248	NM_203314.3(BDH1):c.566G>A (p.Arg189His)	BDH1 (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596663	NM_203314.3(BDH1):c.527C>T (p.Thr176Met)	BDH1 (T176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133590	NM_203314.3(BDH1):c.521G>A (p.Arg174Gln)	BDH1 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306445	NM_203314.3(BDH1):c.457G>A (p.Val153Met)	BDH1 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267135	NM_203314.3(BDH1):c.451G>A (p.Gly151Arg)	BDH1 (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133589	NM_203314.3(BDH1):c.446C>T (p.Thr149Met)	BDH1 (T149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720182	NM_203314.3(BDH1):c.414G>A (p.Met138Ile)	BDH1 (M138I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3055320	NM_203314.3(BDH1):c.411C>G (p.Gly137=)	BDH1	Single nucleotide variant (synonymous variant)	BDH1-related disorder	GBenign
Select item 3260732	NM_203314.3(BDH1):c.351C>A (p.Ser117Arg)	BDH1 (S117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044178	NM_203314.3(BDH1):c.328G>A (p.Val110Ile)	BDH1 (V110I)	Single nucleotide variant (missense variant)	BDH1-related disorder	GLikely benign
Select item 3133588	NM_203314.3(BDH1):c.317G>A (p.Arg106Gln)	BDH1 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145729	GRCh38/hg38 3q29(chr3:197532364-197658495)x3	BDH1, LOC111828515 +5 more	Copy number gain	See cases	GBenign
Select item 3053006	NM_203314.3(BDH1):c.267+9C>T	BDH1	Single nucleotide variant (intron variant)	BDH1-related disorder	GLikely benign
Select item 712520	NM_203314.3(BDH1):c.177G>C (p.Leu59=)	BDH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133587	NM_203314.3(BDH1):c.155C>T (p.Pro52Leu)	BDH1 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260733	NM_203314.3(BDH1):c.154C>A (p.Pro52Thr)	BDH1 (P52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369523	NM_203314.3(BDH1):c.149C>T (p.Ala50Val)	BDH1 (A50V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242208	NM_203314.3(BDH1):c.136T>C (p.Tyr46His)	BDH1 (Y46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783412	NM_203314.3(BDH1):c.131G>A (p.Arg44Gln)	BDH1 (R44Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3133584	NM_203314.3(BDH1):c.128G>A (p.Arg43His)	BDH1 (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044823	NM_203314.3(BDH1):c.127C>T (p.Arg43Cys)	BDH1 (R43C)	Single nucleotide variant (missense variant)	BDH1-related disorder	GBenign
Select item 3133586	NM_203314.3(BDH1):c.14G>A (p.Arg5His)	BDH1 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040435	NM_203314.3(BDH1):c.-10C>T	BDH1	Single nucleotide variant (5 prime UTR variant)	BDH1-related disorder	GLikely benign
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062702	GRCh37/hg19 3q29(chr3:196657995-197656512)x1	BDH1, DLG1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic

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