593[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 680489	NM_000709.3(BCKDHA):c.-312A>T	BCKDHA	Single nucleotide variant	not provided	GBenign
Select item 1267201	NC_000019.10:g.41397667del	BCKDHA	Deletion	not provided	GBenign
Select item 1221409	NC_000019.10:g.41397677del	BCKDHA	Deletion	not provided	GBenign
Select item 1211713	NC_000019.10:g.41397669T>A	BCKDHA	Single nucleotide variant	not provided	GLikely benign
Select item 1292339	NC_000019.10:g.41397766A>G	BCKDHA	Single nucleotide variant	not provided	GBenign
Select item 1227799	NC_000019.10:g.41397770A>G	BCKDHA	Single nucleotide variant	not provided	GBenign
Select item 93334	NM_000709.3(BCKDHA):c.-34T>G	BCKDHA	Single nucleotide variant	Maple syrup urine disease +1 more	GBenign/Likely benign
Select item 386052	NM_000709.3(BCKDHA):c.-28C>G	BCKDHA	Single nucleotide variant	not specified +1 more	GBenign
Select item 329356	NM_000709.3(BCKDHA):c.-25G>C	BCKDHA	Single nucleotide variant	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 390562	NM_000709.3(BCKDHA):c.-22C>A	BCKDHA	Single nucleotide variant	not specified	GLikely benign
Select item 1996087	NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)	BCKDHA (I5fs)	Insertion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 556147	NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)	BCKDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1618205	NM_000709.4(BCKDHA):c.6G>A (p.Ala2=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2855085	NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1607914	NM_000709.4(BCKDHA):c.12G>C (p.Ala4=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2535516	NM_000709.4(BCKDHA):c.14T>C (p.Ile5Thr)	BCKDHA (I5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93349	NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	BCKDHA (I5fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1118789	NM_000709.4(BCKDHA):c.15C>A (p.Ile5=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 385661	NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1787575	NM_000709.4(BCKDHA):c.21A>G (p.Ala7=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 1787573	NM_000709.4(BCKDHA):c.21A>C (p.Ala7=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 1789268	NM_000709.4(BCKDHA):c.22G>C (p.Ala8Pro)	BCKDHA (A8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1138391	NM_000709.4(BCKDHA):c.24G>A (p.Ala8=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1153739	NM_000709.4(BCKDHA):c.27G>A (p.Arg9=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1405332	NM_000709.4(BCKDHA):c.28G>T (p.Val10Phe)	BCKDHA (V10F)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1610496	NM_000709.4(BCKDHA):c.30C>G (p.Val10=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1120833	NM_000709.4(BCKDHA):c.30C>T (p.Val10=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2445876	NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)	BCKDHA (W11*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 1456714	NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)	BCKDHA (W11*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 93355	NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +2 more	GBenign/Likely benign
Select item 1352999	NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln)	BCKDHA (R12Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1093746	NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)	BCKDHA (R12P)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 2023162	NM_000709.4(BCKDHA):c.41del (p.Asn14fs)	BCKDHA (N14fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 1929945	NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1662876	NM_000709.4(BCKDHA):c.42C>T (p.Asn14=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 970887	NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)	BCKDHA (R15C)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 972611	NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)	BCKDHA (G16D)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 2972907	NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)	BCKDHA (Q19*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 1445552	NM_000709.4(BCKDHA):c.59C>T (p.Ala20Val)	BCKDHA (A20V)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1949138	NM_000709.4(BCKDHA):c.60T>A (p.Ala20=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1657908	NM_000709.4(BCKDHA):c.60T>C (p.Ala20=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2430786	NM_000709.4(BCKDHA):c.62C>T (p.Ala21Val)	BCKDHA (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384774	NM_000709.4(BCKDHA):c.63C>G (p.Ala21=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 329357	NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342424	NM_000709.4(BCKDHA):c.65del (p.Leu22fs)	BCKDHA (L22fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2172648	NM_000709.4(BCKDHA):c.67del (p.Leu23fs)	BCKDHA (L23fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 2080652	NM_000709.4(BCKDHA):c.66C>T (p.Leu22=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1089960	NM_000709.4(BCKDHA):c.69G>C (p.Leu23=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1089552	NM_000709.4(BCKDHA):c.73C>T (p.Leu25=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 753160	NM_000709.4(BCKDHA):c.75G>A (p.Leu25=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1324386	NM_000709.4(BCKDHA):c.78del (p.Gln27fs)	BCKDHA (Q27fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 2998759	NM_000709.4(BCKDHA):c.84T>G (p.Pro28=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 797614	NM_000709.4(BCKDHA):c.87G>A (p.Gly29=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1929552	NM_000709.4(BCKDHA):c.108+4A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 573260	NM_000709.4(BCKDHA):c.108+5G>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely pathogenic
Select item 1145188	NM_000709.4(BCKDHA):c.108+8C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2695796	NM_000709.4(BCKDHA):c.108+9C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 892894	NM_000709.4(BCKDHA):c.108+12G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 2982472	NM_000709.4(BCKDHA):c.108+14C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2994165	NM_000709.4(BCKDHA):c.108+15C>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2904720	NM_000709.4(BCKDHA):c.108+17C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 680490	NM_000709.4(BCKDHA):c.108+325C>T	BCKDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3002537	NM_000709.4(BCKDHA):c.109-19C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1637776	NM_000709.4(BCKDHA):c.109-16C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2140915	NM_000709.4(BCKDHA):c.109-15T>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 2833450	NM_000709.4(BCKDHA):c.109-14G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2741146	NM_000709.4(BCKDHA):c.109-11C>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1657549	NM_000709.4(BCKDHA):c.109-9C>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1542300	NM_000709.4(BCKDHA):c.109-9C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2096104	NM_000709.4(BCKDHA):c.109-6C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1106715	NM_000709.4(BCKDHA):c.109-5C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1085816	NM_000709.4(BCKDHA):c.109-4C>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1067117	NM_000709.4(BCKDHA):c.109-1G>A	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 550872	NM_000709.3(BCKDHA):c.111_122del12	BCKDHA	Deletion	Maple syrup urine disease	GUncertain significance
Select item 1075969	NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 166741	NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease +3 more	GPathogenic
Select item 2874506	NM_000709.4(BCKDHA):c.111C>T (p.His37=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 93342	NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	BCKDHA (R40fs)	Deletion (frameshift variant)	Maple syrup urine disease +2 more	GPathogenic
Select item 93338	NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +2 more	GBenign
Select item 93337	NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +4 more	GBenign/Likely benign
Select item 1088802	NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)	BCKDHA (P39S)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely benign
Select item 3240915	NM_000709.4(BCKDHA):c.116_117insA (p.Arg40fs)	BCKDHA (R40fs)	Insertion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 2055815	NM_000709.4(BCKDHA):c.116C>G (p.Pro39Arg)	BCKDHA (P39R)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely benign
Select item 93341	NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)	BCKDHA (P39H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3240916	NM_000709.4(BCKDHA):c.118dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 2413401	NM_000709.4(BCKDHA):c.117C>T (p.Pro39=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1080941	NM_000709.4(BCKDHA):c.117C>G (p.Pro39=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 382383	NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +2 more	GLikely benign
Select item 555859	NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)	BCKDHA	Microsatellite (inframe_insertion)	Maple syrup urine disease	GUncertain significance
Select item 1111115	NM_000709.4(BCKDHA):c.123G>A (p.Gln41=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 893708	NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)	BCKDHA (Q42R)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 1137145	NM_000709.4(BCKDHA):c.126G>A (p.Gln42=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 550878	NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	BCKDHA (Q43*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 1143042	NM_000709.4(BCKDHA):c.129G>A (p.Gln43=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 3240914	NM_000709.4(BCKDHA):c.131_133dup (p.Phe45Ter)	BCKDHA (F45*)	Duplication (nonsense)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 1069052	NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)	BCKDHA (Q44*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 2680122	NM_000709.4(BCKDHA):c.136del (p.Ser46fs)	BCKDHA (S46fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 950042	NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)	BCKDHA (F45L)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance

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