Related gene-specific medical variations for Gene (Select 10497) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330992	NM_001371189.2(UNC13B):c.11815G>A (p.Ala3939Thr)	LOC126860619, UNC13B (A1570T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330989	NM_001371189.2(UNC13B):c.12964G>A (p.Val4322Met)	LOC126860620, UNC13B (V1203M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186496	NM_001371189.2(UNC13B):c.13007C>T (p.Thr4336Met)	LOC126860620, UNC13B (T1586M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186494	NM_001371189.2(UNC13B):c.12892G>C (p.Gly4298Arg)	LOC126860620, UNC13B (G1179R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186493	NM_001371189.2(UNC13B):c.12775T>G (p.Leu4259Val)	LOC126860620, UNC13B (L1140V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186491	NM_001371189.2(UNC13B):c.12550A>G (p.Thr4184Ala)	LOC126860620, UNC13B (T1065A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186487	NM_001371189.2(UNC13B):c.11855G>T (p.Ser3952Ile)	LOC126860619, UNC13B (S1153I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620103	NM_001371189.2(UNC13B):c.11765T>C (p.Leu3922Pro)	LOC126860619, UNC13B (L1123P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618446	NM_001371189.2(UNC13B):c.12656A>G (p.His4219Arg)	LOC126860620, UNC13B (H1469R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473914	NM_001371189.2(UNC13B):c.11729C>A (p.Pro3910Gln)	LOC126860619, UNC13B (P1112Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361424	NM_001371189.2(UNC13B):c.12701A>T (p.Asn4234Ile)	LOC126860620, UNC13B (N1435I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354075	NM_001371189.2(UNC13B):c.12964G>T (p.Val4322Leu)	LOC126860620, UNC13B (V1524L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326000	NM_001371189.2(UNC13B):c.11807T>C (p.Met3936Thr)	LOC126860619, UNC13B (M1137T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314887	NM_001371189.2(UNC13B):c.12703A>G (p.Asn4235Asp)	LOC126860620, UNC13B (N1498D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263497	NM_001371189.2(UNC13B):c.12980T>C (p.Val4327Ala)	LOC126860620, UNC13B (V1208A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204393	NM_001371189.2(UNC13B):c.12895C>T (p.Arg4299Trp)	UNC13B, LOC126860620 (R1500W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701769	NM_001371189.2(UNC13B):c.4216G>A (p.Asp1406Asn)	UNC13B (D1406N)	Single nucleotide variant (missense variant +1 more)	UNC13B-related seizure disorder	GUncertain significance
Select item 1701684	NM_001371189.2(UNC13B):c.12182C>T (p.Pro4061Leu)	UNC13B (P1262L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1527519	GRCh37/hg19 9p13.3(chr9:35279304-35438294)	UNC13B	Copy number loss	not specified	GUncertain significance
Select item 666455	GRCh37/hg19 9p13.3(chr9:35196492-35383530)x3	UNC13B	Copy number gain	not provided	GLikely benign

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Items: 20