BABAM1[gene] - ClinVar

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Items: 32

	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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 1227766	NM_014173.4(BABAM1):c.-13-45C>T	BABAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3132743	NM_014173.4(BABAM1):c.169A>G (p.Ser57Gly)	BABAM1 (S57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132744	NM_014173.4(BABAM1):c.194C>T (p.Thr65Ile)	BABAM1 (T65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604168	NM_014173.4(BABAM1):c.254G>A (p.Arg85Gln)	BABAM1 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132745	NM_014173.4(BABAM1):c.473G>T (p.Gly158Val)	BABAM1 (G158V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555228	NM_014173.4(BABAM1):c.560T>G (p.Phe187Cys)	BABAM1 (F187C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132746	NM_014173.4(BABAM1):c.603C>A (p.Asn201Lys)	BABAM1 (N201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606289	NM_014173.4(BABAM1):c.614T>C (p.Ile205Thr)	BABAM1 (I130T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517231	NM_014173.4(BABAM1):c.635G>C (p.Arg212Pro)	BABAM1 (R137P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132747	NM_014173.4(BABAM1):c.674A>T (p.Gln225Leu)	BABAM1 (Q150L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496249	NM_014173.4(BABAM1):c.736G>A (p.Val246Ile)	BABAM1 (V171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286519	NM_014173.4(BABAM1):c.766G>A (p.Glu256Lys)	BABAM1 (E181K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132748	NM_014173.4(BABAM1):c.787G>A (p.Asp263Asn)	BABAM1 (D263N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483548	NM_014173.4(BABAM1):c.787G>C (p.Asp263His)	BABAM1 (D263H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390955	NM_014173.4(BABAM1):c.833A>G (p.Tyr278Cys)	BABAM1 (Y203C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance

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Items: 32