686[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 2467017	NM_012260.4(HACL1):c.52A>G (p.Lys18Glu)	HACL1, BTD (K18E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240435	NM_012260.4(HACL1):c.15C>G (p.Asn5Lys)	BTD, HACL1 (N5K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395183	NM_012260.4(HACL1):c.12T>G (p.Ser4Arg)	BTD, HACL1 (S4R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507522	NM_012260.4(HACL1):c.8A>G (p.Asp3Gly)	BTD, HACL1 (D3G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1266847	NM_001281723.3(BTD):c.-251A>G	BTD, HACL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1221031	NM_001281723.3(BTD):c.-119G>A	BTD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188411	NM_001281723.3(BTD):c.-74G>C	BTD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2430755	NM_001281723.3(BTD):c.-44G>T	BTD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 343901	NM_001370658.1(BTD):c.-148C>T	BTD	Single nucleotide variant (5 prime UTR variant +3 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 343902	NM_001370658.1(BTD):c.-105C>T	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 25104	NM_001370658.1(BTD):c.-94C>T	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency +2 more	GBenign/Likely benign
Select item 343903	NM_001370658.1(BTD):c.-87G>T	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 550283	NM_001370658.1(BTD):c.-74G>A	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 343904	NM_001370658.1(BTD):c.-65G>T	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 558675	NM_001370658.1(BTD):c.-60A>G	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 558577	NM_001370658.1(BTD):c.-59T>C	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 552501	NM_001370658.1(BTD):c.-59T>A	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Biotinidase deficiency	GUncertain significance
Select item 555087	NM_001370658.1(BTD):c.-58G>A	BTD	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 2051019	NM_001370658.1(BTD):c.-51G>T	BTD (A4S)	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 1089496	NM_001370658.1(BTD):c.-46T>C	BTD	Single nucleotide variant (synonymous variant +3 more)	Biotinidase deficiency	GLikely benign
Select item 991773	NM_001370658.1(BTD):c.-45A>T	BTD (I6F)	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 946958	NM_001370658.1(BTD):c.-38G>A	BTD (G8D)	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 2611844	NM_001370658.1(BTD):c.-30C>G	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1120490	NM_001370658.1(BTD):c.-28C>T	BTD	Single nucleotide variant (synonymous variant +3 more)	Biotinidase deficiency	GLikely benign
Select item 2680362	NM_001370658.1(BTD):c.-24A>T	BTD (K13*)	Single nucleotide variant (nonsense +3 more)	Biotinidase deficiency	GLikely pathogenic
Select item 1090944	NM_001370658.1(BTD):c.-22G>A	BTD	Single nucleotide variant (synonymous variant +3 more)	Biotinidase deficiency	GLikely benign
Select item 2723714	NM_001370658.1(BTD):c.-18A>G	BTD (R15G)	Single nucleotide variant (missense variant +3 more)	Biotinidase deficiency	GUncertain significance
Select item 641018	NM_001370658.1(BTD):c.-18del	BTD	Deletion (frameshift variant +3 more)	Biotinidase deficiency	GPathogenic
Select item 552129	NM_001370658.1(BTD):c.-17_-17+3del	BTD	Deletion (splice donor variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 371272	NM_001370658.1(BTD):c.-18A>T	BTD	Single nucleotide variant (nonsense +3 more)	Biotinidase deficiency	GLikely pathogenic
Select item 371236	NM_001370658.1(BTD):c.-17+1del	BTD	Deletion (splice donor variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370613	NM_001370658.1(BTD):c.-17+1G>T	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370391	NM_001370658.1(BTD):c.-17+1G>C	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370376	NM_001370658.1(BTD):c.-17+1G>A	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 1068379	NM_001370658.1(BTD):c.-17+2T>C	BTD	Single nucleotide variant (splice donor variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 593388	NM_001370658.1(BTD):c.-17+4C>A	BTD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2710843	NM_001370658.1(BTD):c.-17+7A>T	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2187997	NM_001370658.1(BTD):c.-17+7A>G	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 1121415	NM_001370658.1(BTD):c.-17+7A>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2061768	NM_001370658.1(BTD):c.-17+8G>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 3018696	NM_001370658.1(BTD):c.-17+12_-17+27dup	BTD	Duplication (intron variant)	Biotinidase deficiency	GLikely benign
Select item 1566040	NM_001370658.1(BTD):c.-17+11G>A	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2184297	NM_001370658.1(BTD):c.-17+13C>G	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GBenign
Select item 1479599	NM_001370658.1(BTD):c.-17+19_-17+39del	BTD	Deletion (intron variant)	Biotinidase deficiency	GUncertain significance
Select item 2999490	NM_001370658.1(BTD):c.-17+16G>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2172129	NM_001370658.1(BTD):c.-17+16G>A	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 1579983	NM_001370658.1(BTD):c.-17+23_-17+27dup	BTD	Duplication (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2822553	NM_001370658.1(BTD):c.-17+20_-17+40dup	BTD	Duplication (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2168220	NM_001370658.1(BTD):c.-17+20C>A	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 1174319	NM_001370658.1(BTD):c.-17+81A>C	BTD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260993	NM_001370658.1(BTD):c.-17+290G>A	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2635730	NM_001370658.1(BTD):c.-16-8407C>T	BTD	Single nucleotide variant (5 prime UTR variant +1 more)	BTD-related disorder	GUncertain significance
Select item 1263530	NM_001370658.1(BTD):c.-16-269G>C	BTD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2809139	NM_001370658.1(BTD):c.-16-19T>C	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2844549	NM_001370658.1(BTD):c.-16-7del	BTD	Deletion (intron variant)	Biotinidase deficiency	GLikely benign
Select item 2021534	NM_001370658.1(BTD):c.-16-7A>T	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 1976693	NM_001370658.1(BTD):c.-16-7A>G	BTD	Single nucleotide variant (intron variant)	Biotinidase deficiency	GLikely benign
Select item 1922179	NM_001370658.1(BTD):c.-16-5T>C	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2032396	NM_001370658.1(BTD):c.-16-2A>G	BTD	Single nucleotide variant (5 prime UTR variant +1 more)	Biotinidase deficiency	GUncertain significance
Select item 3240981	NM_001370658.1(BTD):c.-6del	BTD	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2875947	NM_001370658.1(BTD):c.-1T>C	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 2609987	NM_001370658.1(BTD):c.5C>T (p.Ser2Phe)	BTD (S2F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2854785	NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)	BTD (R5I +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GUncertain significance
Select item 2199426	NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)	BTD (F31L +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GUncertain significance
Select item 3065157	NM_001370658.1(BTD):c.38_44del (p.Cys13fs)	BTD (C13fs)	Deletion (frameshift variant)	Biotinidase deficiency	GUncertain significance
Select item 801941	NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)	BTD (C13F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1895	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	BTD (C13fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 24972	NM_001370658.1(BTD):c.39C>T (p.Cys13=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency +1 more	GLikely benign
Select item 809436	NM_001370658.1(BTD):c.40G>C (p.Gly14Arg)	BTD (G14R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631911	NM_001370658.1(BTD):c.41_44del (p.Gly14fs)	BTD (G14fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 373906	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD (G14fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 1899	NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	BTD (G14S)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 801942	NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	BTD (C15fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 370847	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	BTD (Y16*)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2066797	NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)	BTD (Y36* +1 more)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 343905	NM_001370658.1(BTD):c.48C>T (p.Tyr16=)	BTD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1429493	NM_001370658.1(BTD):c.49G>A (p.Val17Met)	BTD (V17M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2680360	NM_001370658.1(BTD):c.52del (p.Val18fs)	BTD (V18fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 1075658	NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)	BTD (G21fs)	Duplication (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 2859442	NM_001370658.1(BTD):c.58C>T (p.Leu20=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 550208	NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	BTD (L20fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 2691456	NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)	BTD (L20P +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 1330058	NM_001370658.1(BTD):c.64G>C (p.Ala22Pro)	BTD (A22P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251587	NM_001370658.1(BTD):c.70_71del (p.Thr24fs)	BTD (T24fs)	Microsatellite (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 38483	NM_001370658.1(BTD):c.68A>G (p.His23Arg)	BTD (H23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1103971	NM_001370658.1(BTD):c.72C>T (p.Thr24=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 24973	NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	BTD (G25R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2680359	NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)	BTD (E26*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 1151097	NM_001370658.1(BTD):c.81G>A (p.Glu27=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 2732704	NM_001370658.1(BTD):c.84C>T (p.Ser28=)	BTD	Single nucleotide variant (synonymous variant)	Biotinidase deficiency	GLikely benign
Select item 3234871	NM_001370658.1(BTD):c.91_92del (p.Asp31fs)	BTD (D31fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic

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