ClinVar for Gene (Select 284697) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262029	NM_001376131.1(BTBD8):c.616C>T (p.Pro206Ser)	BTBD8 (P206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262028	NM_001376131.1(BTBD8):c.146T>G (p.Leu49Arg)	BTBD8 (L49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247790	NC_000001.10:g.(?_92457801)_(92949044_?)dup	BRDT, BTBD8 +5 more	Duplication	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	BRDT, BTBD8 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 3235272	NM_001376131.1(BTBD8):c.2196A>G (p.Ser732=)	BTBD8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3135458	NM_001376131.1(BTBD8):c.973A>G (p.Ile325Val)	BTBD8 (I325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135457	NM_001376131.1(BTBD8):c.857T>A (p.Met286Lys)	BTBD8 (M286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135456	NM_001376131.1(BTBD8):c.625G>A (p.Asp209Asn)	BTBD8 (D209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135455	NM_001376131.1(BTBD8):c.545A>T (p.Asp182Val)	BTBD8 (D182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135454	NM_001376131.1(BTBD8):c.430C>A (p.Gln144Lys)	BTBD8 (Q144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638929	NM_001376131.1(BTBD8):c.1032G>A (p.Lys344=)	BTBD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592037	NM_001376131.1(BTBD8):c.17A>G (p.Glu6Gly)	BTBD8 (E6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546300	NM_001376131.1(BTBD8):c.38T>A (p.Val13Glu)	BTBD8 (V13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544948	NM_001376131.1(BTBD8):c.1100T>G (p.Leu367Arg)	BTBD8 (L367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489260	NM_001376131.1(BTBD8):c.824C>G (p.Thr275Ser)	BTBD8 (T275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484557	NM_001376131.1(BTBD8):c.230T>C (p.Leu77Ser)	BTBD8 (L77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379686	NM_001376131.1(BTBD8):c.674G>A (p.Ser225Asn)	BTBD8 (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371805	NM_001376131.1(BTBD8):c.221C>T (p.Ala74Val)	BTBD8 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257357	NM_001376131.1(BTBD8):c.74T>G (p.Leu25Trp)	BTBD8 (L25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246923	NM_001376131.1(BTBD8):c.814C>T (p.Pro272Ser)	BTBD8 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809458	GRCh37/hg19 1p22.1(chr1:92157808-92714991)x3	BRDT, BTBD8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	GPathogenic
Select item 791802	NM_001376131.1(BTBD8):c.3292A>T (p.Asn1098Tyr)	BTBD8 (N1098Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777925	NM_001376131.1(BTBD8):c.2451G>A (p.Lys817=)	BTBD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565125	GRCh37/hg19 1p22.1(chr1:92064829-92836061)x3	BTBD8, GLMN +6 more	Copy number gain	not provided	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 425525	GRCh37/hg19 1p22.1(chr1:92241399-92656121)x3	TGFBR3, BTBD8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 146293	GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3	BRDT, BTBD8 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57784	GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3	BRDT, BTBD8 +10 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 34