BTBD2[gene] and "single gene"[properties] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135418	NM_017797.4(BTBD2):c.1509C>T (p.Tyr503=)	BTBD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2510244	NM_017797.4(BTBD2):c.1420C>T (p.Pro474Ser)	BTBD2 (P474S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259438	NM_017797.4(BTBD2):c.1387G>A (p.Val463Ile)	BTBD2 (V463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135417	NM_017797.4(BTBD2):c.1375G>A (p.Val459Met)	BTBD2 (V459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135416	NM_017797.4(BTBD2):c.1351G>A (p.Val451Ile)	BTBD2 (V451I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135415	NM_017797.4(BTBD2):c.1348C>T (p.Arg450Cys)	BTBD2 (R450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286812	NM_017797.4(BTBD2):c.1337C>T (p.Ala446Val)	BTBD2 (A446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135414	NM_017797.4(BTBD2):c.1327G>A (p.Asp443Asn)	BTBD2 (D443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262006	NM_017797.4(BTBD2):c.1313C>T (p.Thr438Met)	BTBD2 (T438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262007	NM_017797.4(BTBD2):c.1207G>A (p.Val403Met)	BTBD2 (V403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135413	NM_017797.4(BTBD2):c.1088C>G (p.Pro363Arg)	BTBD2 (P363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135412	NM_017797.4(BTBD2):c.1085G>A (p.Arg362Gln)	BTBD2 (R362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356914	NM_017797.4(BTBD2):c.1001C>T (p.Ser334Leu)	BTBD2 (S334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262009	NM_017797.4(BTBD2):c.923A>C (p.Lys308Thr)	BTBD2 (K308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495943	NM_017797.4(BTBD2):c.863G>A (p.Arg288His)	BTBD2 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407672	NM_017797.4(BTBD2):c.841C>T (p.Arg281Trp)	BTBD2 (R281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135423	NM_017797.4(BTBD2):c.833G>A (p.Arg278His)	BTBD2 (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364695	NM_017797.4(BTBD2):c.817G>A (p.Asp273Asn)	BTBD2 (D273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648954	NM_017797.4(BTBD2):c.753C>T (p.Asp251=)	BTBD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135422	NM_017797.4(BTBD2):c.738C>G (p.Asp246Glu)	BTBD2 (D246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135421	NM_017797.4(BTBD2):c.737A>G (p.Asp246Gly)	BTBD2 (D246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218568	NM_017797.4(BTBD2):c.670A>G (p.Met224Val)	BTBD2 (M224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359535	NM_017797.4(BTBD2):c.602C>T (p.Ala201Val)	BTBD2 (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135420	NM_017797.4(BTBD2):c.578C>A (p.Thr193Lys)	BTBD2 (T193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648955	NM_017797.4(BTBD2):c.507T>A (p.Ala169=)	BTBD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648956	NM_017797.4(BTBD2):c.432C>T (p.Ala144=)	BTBD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296162	NM_017797.4(BTBD2):c.422T>C (p.Val141Ala)	BTBD2 (V141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648957	NM_017797.4(BTBD2):c.408-8C>T	BTBD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2511311	NM_017797.4(BTBD2):c.343G>A (p.Val115Met)	BTBD2 (V115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412276	NM_017797.4(BTBD2):c.172A>C (p.Thr58Pro)	BTBD2 (T58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031343	NM_017797.4(BTBD2):c.124GCC[6] (p.Ala48_Ala54del)	BTBD2	Microsatellite	BTBD2-related disorder	GLikely benign
Select item 2515344	NM_017797.4(BTBD2):c.160G>T (p.Ala54Ser)	BTBD2 (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347761	NM_017797.4(BTBD2):c.110C>T (p.Ala37Val)	BTBD2 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254315	NM_017797.4(BTBD2):c.64A>T (p.Thr22Ser)	BTBD2 (T22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032698	NM_017797.4(BTBD2):c.25C>T (p.Arg9Cys)	BTBD2 (R9C)	Single nucleotide variant (missense variant)	BTBD2-related disorder	GLikely benign

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Items: 35