ClinVar for Gene (Select 622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3133595	NM_203314.3(BDH1):c.641G>C (p.Gly214Ala)	BDH1 (G214A)	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 3133592	NM_203314.3(BDH1):c.571G>A (p.Val191Ile)	BDH1 (V191I)	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 3133589	NM_203314.3(BDH1):c.446C>T (p.Thr149Met)	BDH1 (T149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3133587	NM_203314.3(BDH1):c.155C>T (p.Pro52Leu)	BDH1 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3133584	NM_203314.3(BDH1):c.128G>A (p.Arg43His)	BDH1 (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062702	GRCh37/hg19 3q29(chr3:196657995-197656512)x1	BDH1, DLG1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3055320	NM_203314.3(BDH1):c.411C>G (p.Gly137=)	BDH1	Single nucleotide variant (synonymous variant)	BDH1-related disorder	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 3052892	NM_203314.3(BDH1):c.941G>A (p.Arg314His)	BDH1 (R314H)	Single nucleotide variant (missense variant)	BDH1-related disorder	GLikely benign
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 3044178	NM_203314.3(BDH1):c.328G>A (p.Val110Ile)	BDH1 (V110I)	Single nucleotide variant (missense variant)	BDH1-related disorder	GLikely benign
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 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
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 2624392	NM_203314.3(BDH1):c.634A>C (p.Lys212Gln)	BDH1 (K212Q)	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 2596663	NM_203314.3(BDH1):c.527C>T (p.Thr176Met)	BDH1 (T176M)	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 2515248	NM_203314.3(BDH1):c.566G>A (p.Arg189His)	BDH1 (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	FBXO45, LOC129938278 +113 more	Copy number loss	See cases	GPathogenic
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	PIGX, SENP5 +26 more	Duplication	not provided	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 2383361	NM_203314.3(BDH1):c.848A>T (p.Lys283Met)	BDH1 (K283M)	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 2369523	NM_203314.3(BDH1):c.149C>T (p.Ala50Val)	BDH1 (A50V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2306445	NM_203314.3(BDH1):c.457G>A (p.Val153Met)	BDH1 (V153M)	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 2267135	NM_203314.3(BDH1):c.451G>A (p.Gly151Arg)	BDH1 (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2227005	NM_203314.3(BDH1):c.1028G>A (p.Arg343His)	BDH1 (R343H)	Single nucleotide variant (missense variant)	not specified	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 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1808419	GRCh37/hg19 3q29(chr3:197185584-197672964)x3	BDH1, FYTTD1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1340763	GRCh37/hg19 3q29(chr3:197099584-197353975)x3	BDH1	Copy number gain	not provided	GUncertain significance
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1340274	GRCh37/hg19 3q29(chr3:197198461-197344176)x1	BDH1	Copy number loss	not provided	GUncertain significance
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	PIGX, PIGZ +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 980657	GRCh37/hg19 3q29(chr3:196552734-197498996)x3	RUBCN, BDH1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 980561	GRCh37/hg19 3q29(chr3:197075198-197591280)x3	FYTTD1, BDH1 +2 more	Copy number gain	not provided	GLikely benign
Select item 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 791966	NM_203314.3(BDH1):c.744C>T (p.Tyr248=)	BDH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783412	NM_203314.3(BDH1):c.131G>A (p.Arg44Gln)	BDH1 (R44Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720182	NM_203314.3(BDH1):c.414G>A (p.Met138Ile)	BDH1 (M138I)	Single nucleotide variant (missense variant)	BDH1-related disorder +1 more	GBenign
Select item 715597	NM_203314.3(BDH1):c.643G>A (p.Val215Ile)	BDH1 (V215I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 712520	NM_203314.3(BDH1):c.177G>C (p.Leu59=)	BDH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688767	GRCh37/hg19 3q29(chr3:197054557-197348561)x3	BDH1	Copy number gain	not provided	GUncertain significance
Select item 687569	GRCh37/hg19 3q29(chr3:197207023-197308276)x3	BDH1	Copy number gain	not provided	GUncertain significance
Select item 686936	GRCh37/hg19 3q29(chr3:197015960-197344176)x3	BDH1, DLG1	Copy number gain	not provided	GUncertain significance
Select item 686315	GRCh37/hg19 3q29(chr3:197193033-197356334)x3	BDH1	Copy number gain	not provided	GUncertain significance
Select item 686190	GRCh37/hg19 3q29(chr3:195700698-197386180)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562873	GRCh37/hg19 3q29(chr3:197263782-197550798)x3	LRCH3, RUBCN +2 more	Copy number gain	not provided	GLikely benign
Select item 562872	GRCh37/hg19 3q29(chr3:196884570-197344176)x3	BDH1, DLG1	Copy number gain	not provided	GUncertain significance
Select item 562871	GRCh37/hg19 3q29(chr3:196812588-197344176)x3	BDH1, DLG1	Copy number gain	not provided	GUncertain significance
Select item 562868	GRCh37/hg19 3q29(chr3:195725290-197356334)x3	RNF168, NRROS +19 more	Copy number gain	not provided	GPathogenic
Select item 562867	GRCh37/hg19 3q29(chr3:195725290-197339848)x3	DYNLT2B, MELTF +19 more	Copy number gain	not provided	GPathogenic
Select item 562865	GRCh37/hg19 3q29(chr3:195703615-197356334)x3	CEP19, DLG1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562864	GRCh37/hg19 3q29(chr3:195703615-197348575)x1	SENP5, SLC51A +19 more	Copy number loss	not provided	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	BDH1, CEP19 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 545293	Single allele	LOC123464499, LOC123464500 +114 more	Duplication	Autism	GLikely pathogenic
Select item 443988	GRCh37/hg19 3q29(chr3:195690227-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 443479	GRCh37/hg19 3q29(chr3:195677309-197356334)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443234	GRCh37/hg19 3q29(chr3:195725290-197344176)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442134	GRCh37/hg19 3q29(chr3:195456034-197356334)x3	BDH1, CEP19 +23 more	Copy number gain	See cases	GUncertain significance
Select item 394349	GRCh37/hg19 3q29(chr3:196892527-197299752)x3	BDH1, DLG1	Copy number gain	See cases	GLikely benign
Select item 394253	GRCh37/hg19 3q29(chr3:195780280-197299752)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 267260	GRCh37/hg19 3q29(chr3:195756054-197344665)x1	DYNLT2B, FBXO45 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 253577	GRCh37/hg19 3q29(chr3:195690241-197299811)x1	NRROS, SENP5 +19 more	Copy number loss	See cases	GPathogenic
Select item 253357	GRCh37/hg19 3q29(chr3:196281672-197681798)x3	PAK2, PIGZ +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 219039	GRCh37/hg19 3q29(chr3:197127599-197771083)x3	BDH1, FYTTD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic

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