Related gene-specific medical variations for Gene (Select 9184) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224524	NM_004725.4(BUB3):c.87C>T (p.Phe29=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3224522	NM_004725.4(BUB3):c.83A>T (p.Gln28Leu)	LOC130004885, BUB3 (Q28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224489	NM_004725.4(BUB3):c.135G>A (p.Pro45=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3224488	NM_004725.4(BUB3):c.129T>C (p.Asp43=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625364	NM_004725.4(BUB3):c.98C>G (p.Ser33Cys)	BUB3, LOC130004885 (S33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625362	NM_004725.4(BUB3):c.72C>A (p.Pro24=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2621440	NM_004725.4(BUB3):c.66C>G (p.Phe22Leu)	BUB3, LOC130004885 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563124	NM_004725.4(BUB3):c.87C>G (p.Phe29Leu)	BUB3, LOC130004885 (F29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563122	NM_004725.4(BUB3):c.66C>A (p.Phe22Leu)	BUB3, LOC130004885 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561577	NM_004725.4(BUB3):c.93T>G (p.Leu31=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560426	NM_004725.4(BUB3):c.128A>G (p.Asp43Gly)	BUB3, LOC130004885 (D43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540231	NM_004725.4(BUB3):c.74A>G (p.Asn25Ser)	BUB3, LOC130004885 (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496889	NM_004725.4(BUB3):c.110C>T (p.Thr37Met)	BUB3, LOC130004885 (T37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496885	NM_004725.4(BUB3):c.111G>A (p.Thr37=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2496879	NM_004725.4(BUB3):c.94G>A (p.Val32Ile)	BUB3, LOC130004885 (V32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496869	NM_004725.4(BUB3):c.88C>T (p.Leu30=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2496856	NM_004725.4(BUB3):c.78C>T (p.Thr26=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448139	NM_004725.4(BUB3):c.129T>A (p.Asp43Glu)	BUB3, LOC130004885 (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448137	NM_004725.4(BUB3):c.102C>G (p.Ser34=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448134	NM_004725.4(BUB3):c.75C>T (p.Asn25=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1783068	NM_004725.4(BUB3):c.106G>C (p.Asp36His)	BUB3, LOC130004885 (D36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770666	NM_004725.4(BUB3):c.102C>T (p.Ser34=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1770566	NM_004725.4(BUB3):c.134C>T (p.Pro45Leu)	LOC130004885, BUB3 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770563	NM_004725.4(BUB3):c.134C>G (p.Pro45Arg)	BUB3, LOC130004885 (P45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770562	NM_004725.4(BUB3):c.134C>A (p.Pro45Gln)	BUB3, LOC130004885 (P45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768883	NM_004725.4(BUB3):c.99C>T (p.Ser33=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767880	NM_004725.4(BUB3):c.96C>T (p.Val32=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767874	NM_004725.4(BUB3):c.96C>A (p.Val32=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1766849	NM_004725.4(BUB3):c.93T>A (p.Leu31=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1765812	NM_004725.4(BUB3):c.90G>T (p.Leu30=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764990	NM_004725.4(BUB3):c.126C>T (p.Tyr42=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1763647	NM_004725.4(BUB3):c.84G>C (p.Gln28His)	BUB3, LOC130004885 (Q28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763642	NM_004725.4(BUB3):c.84G>A (p.Gln28=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1762410	NM_004725.4(BUB3):c.81C>G (p.Ser27=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760474	NM_004725.4(BUB3):c.124T>C (p.Tyr42His)	BUB3, LOC130004885 (Y42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760199	NM_004725.4(BUB3):c.76A>T (p.Thr26Ser)	BUB3, LOC130004885 (T26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760193	NM_004725.4(BUB3):c.76A>G (p.Thr26Ala)	BUB3, LOC130004885 (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1758182	NM_004725.4(BUB3):c.72C>G (p.Pro24=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1757646	NM_004725.4(BUB3):c.71C>G (p.Pro24Arg)	BUB3, LOC130004885 (P24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1755024	NM_004725.4(BUB3):c.101C>T (p.Ser34Phe)	BUB3, LOC130004885 (S34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754667	NM_004725.4(BUB3):c.101C>G (p.Ser34Cys)	BUB3, LOC130004885 (S34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754430	NM_004725.4(BUB3):c.101C>A (p.Ser34Tyr)	BUB3, LOC130004885 (S34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1752643	NM_004725.4(BUB3):c.121C>G (p.Leu41Val)	BUB3, LOC130004885 (L41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1750080	NM_004725.4(BUB3):c.120T>C (p.Arg40=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746886	NM_004725.4(BUB3):c.119G>A (p.Arg40His)	BUB3, LOC130004885 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1744484	NM_004725.4(BUB3):c.118C>G (p.Arg40Gly)	BUB3, LOC130004885 (R40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1741899	NM_004725.4(BUB3):c.117G>T (p.Val39=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1736406	NM_004725.4(BUB3):c.115G>C (p.Val39Leu)	BUB3, LOC130004885 (V39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1736334	NM_004725.4(BUB3):c.115G>A (p.Val39Met)	BUB3, LOC130004885 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1733559	NM_004725.4(BUB3):c.114C>T (p.Ser38=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733491	NM_004725.4(BUB3):c.114C>G (p.Ser38=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1730788	NM_004725.4(BUB3):c.113C>T (p.Ser38Phe)	LOC130004885, BUB3 (S38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 52