BABAM1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	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 3259678	NM_014173.4(BABAM1):c.554G>A (p.Gly185Glu)	BABAM1 (G185E)	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 3259689	NM_014173.4(BABAM1):c.860C>T (p.Pro287Leu)	BABAM1 (P212L +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34