Related gene-specific medical variations for Gene (Select 63035) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064373	NM_001379451.1(BCORL1):c.934C>T (p.Pro312Ser)	BCORL1 (P312S)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2582337	NM_001379451.1(BCORL1):c.3896G>A (p.Arg1299Gln)	BCORL1 (R1299Q)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2498380	NM_001379451.1(BCORL1):c.200G>C (p.Ser67Thr)	BCORL1 (S67T)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439506	NM_001379451.1(BCORL1):c.3233G>C (p.Gly1078Ala)	BCORL1 (G1078A)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439505	NM_001379451.1(BCORL1):c.2320G>T (p.Gly774Cys)	BCORL1 (G774C)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439504	NM_001379451.1(BCORL1):c.2467C>T (p.Pro823Ser)	BCORL1 (P823S)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439503	NM_001379451.1(BCORL1):c.2954A>G (p.Gln985Arg)	BCORL1 (Q985R)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439502	NM_001379451.1(BCORL1):c.4810A>T (p.Ser1604Cys)	BCORL1 (S1530C +1 more)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439501	NM_001379451.1(BCORL1):c.2582G>A (p.Arg861Lys)	BCORL1 (R861K)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439500	NM_001379451.1(BCORL1):c.2378G>T (p.Gly793Val)	BCORL1 (G793V)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 2439497	NM_001379451.1(BCORL1):c.800C>T (p.Thr267Met)	BCORL1 (T267M)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance
Select item 1722312	NM_001379451.1(BCORL1):c.1562_1563del (p.Leu521fs)	BCORL1 (L521fs)	Deletion (frameshift variant)	Shukla-Vernon syndrome	GLikely pathogenic
Select item 1319652	NM_001379451.1(BCORL1):c.3071A>G (p.Asp1024Gly)	BCORL1 (D1024G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213817	NM_001379451.1(BCORL1):c.3401C>A (p.Pro1134Gln)	BCORL1 (P1134Q)	Single nucleotide variant (missense variant)	Shukla-Vernon syndrome	GUncertain significance