Related gene-specific medical variations for Gene (Select 27077) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132731	NM_015681.6(B9D1):c.31C>T (p.Leu11Phe)	B9D1, LOC130060455 (L11F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3040407	NM_015681.6(B9D1):c.-24C>A	B9D1, LOC130060455	Single nucleotide variant (5 prime UTR variant +1 more)	B9D1-related disorder	GLikely benign
Select item 3030388	NM_015681.6(B9D1):c.30A>G (p.Leu10=)	B9D1, LOC130060455	Single nucleotide variant (synonymous variant +1 more)	B9D1-related disorder	GLikely benign
Select item 2928921	NM_015681.6(B9D1):c.63+16C>T	B9D1, LOC130060455	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2141718	NM_015681.6(B9D1):c.63+6C>A	B9D1, LOC130060455	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2094731	NM_015681.6(B9D1):c.55A>C (p.Ser19Arg)	B9D1, LOC130060455 (S19R)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2061297	NM_015681.6(B9D1):c.22G>A (p.Val8Ile)	B9D1, LOC130060455 (V8I)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2041483	NM_015681.6(B9D1):c.49G>A (p.Val17Met)	B9D1, LOC130060455 (V17M)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1962920	NM_015681.6(B9D1):c.26T>G (p.Phe9Cys)	B9D1, LOC130060455 (F9C)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1674477	NM_015681.6(B9D1):c.63+19dup	B9D1, LOC130060455	Duplication (intron variant)	Familial aplasia of the vermis +1 more	GBenign
Select item 1620156	NM_015681.6(B9D1):c.63+20G>A	B9D1, LOC130060455	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1549101	NM_015681.6(B9D1):c.63+20_63+43del	B9D1, LOC130060455	Deletion (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1545624	NM_015681.6(B9D1):c.63+11G>A	B9D1, LOC130060455	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1510127	NM_015681.6(B9D1):c.28C>G (p.Leu10Val)	B9D1, LOC130060455 (L10V)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1504984	NM_015681.6(B9D1):c.55A>G (p.Ser19Gly)	B9D1, LOC130060455 (S19G)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1460911	NM_015681.6(B9D1):c.41A>G (p.Asn14Ser)	B9D1, LOC130060455 (N14S)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1380141	NM_015681.6(B9D1):c.20G>A (p.Ser7Asn)	B9D1, LOC130060455 (S7N)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1239791	NM_001321218.2(B9D1):c.473-295T>C	B9D1, LOC130060453	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225001	NM_015681.6(B9D1):c.63+224G>A	B9D1, LOC130060454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197455	NM_001321218.2(B9D1):c.473-304G>A	B9D1, LOC130060453	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192004	NM_015681.6(B9D1):c.63+92A>C	LOC130060455, B9D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1083083	NM_015681.6(B9D1):c.30A>C (p.Leu10=)	B9D1, LOC130060455	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1041616	NM_015681.6(B9D1):c.11C>G (p.Ala4Gly)	B9D1, LOC130060455 (A4G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 983354	NM_001321219.2(B9D1):c.425C>A (p.Ser142Ter)	B9D1 (Q165K +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 890122	NM_015681.6(B9D1):c.-42C>T	B9D1, LOC130060455	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 890121	NM_015681.6(B9D1):c.-21C>T	B9D1, LOC130060455	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 9	GUncertain significance
Select item 890120	NM_015681.6(B9D1):c.9C>G (p.Thr3=)	B9D1, LOC130060455	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 9 +2 more	GConflicting classifications of pathogenicity
Select item 674719	NM_015681.6(B9D1):c.63+23G>A	B9D1, LOC130060455	Single nucleotide variant (intron variant)	Meckel syndrome, type 9 +2 more	GBenign
Select item 635892	NM_015681.6(B9D1):c.285_341+154del	B9D1	Deletion (splice donor variant)	Meckel-Gruber syndrome	GPathogenic
Select item 434476	NM_015681.6(B9D1):c.33C>T (p.Leu11=)	B9D1, LOC130060455	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 260673	NM_015681.6(B9D1):c.244+19T>C	B9D1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 217554	NM_015681.6(B9D1):c.466C>T (p.Arg156Trp)	B9D1 (R156W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic

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Links from Gene

Items: 32