"PreventionGenetics, part of Exact Sciences"[submitter] AND "BACH2"[ge - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048364	NM_021813.4(BACH2):c.*10T>A	BACH2	Single nucleotide variant (3 prime UTR variant)	BACH2-related disorder	GBenign
Select item 3040348	NM_021813.4(BACH2):c.*7G>A	BACH2	Single nucleotide variant (3 prime UTR variant)	BACH2-related disorder	GLikely benign
Select item 1635080	NM_021813.4(BACH2):c.2331C>T (p.Pro777=)	BACH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 636771	NM_021813.4(BACH2):c.2230A>G (p.Ile744Val)	BACH2 (I744V)	Single nucleotide variant (missense variant)	BACH2-related disorder +2 more	GUncertain significance
Select item 1155295	NM_021813.4(BACH2):c.2220G>A (p.Thr740=)	BACH2	Single nucleotide variant (synonymous variant)	BACH2-related disorder +1 more	GLikely benign
Select item 1398282	NM_021813.4(BACH2):c.2183G>A (p.Arg728Gln)	BACH2 (R728Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1564213	NM_021813.4(BACH2):c.1791G>A (p.Ser597=)	BACH2	Single nucleotide variant (synonymous variant)	BACH2-related disorder +1 more	GLikely benign
Select item 715402	NM_021813.4(BACH2):c.1536C>G (p.Pro512=)	BACH2	Single nucleotide variant (synonymous variant)	BACH2-related disorder +1 more	GBenign/Likely benign
Select item 1161957	NM_021813.4(BACH2):c.1435G>A (p.Ala479Thr)	BACH2 (A479T)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GBenign/Likely benign
Select item 2629397	NM_021813.4(BACH2):c.1411G>A (p.Gly471Ser)	BACH2 (G471S)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GUncertain significance
Select item 2006500	NM_021813.4(BACH2):c.1402G>T (p.Val468Leu)	BACH2 (V468L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1522997	NM_021813.4(BACH2):c.1337A>G (p.His446Arg)	BACH2 (H446R)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GUncertain significance
Select item 709781	NM_021813.4(BACH2):c.1252G>A (p.Ala418Thr)	BACH2 (A418T)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GBenign/Likely benign
Select item 1139633	NM_021813.4(BACH2):c.1244G>A (p.Gly415Glu)	BACH2 (G415E)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GLikely benign
Select item 1498596	NM_021813.4(BACH2):c.1076C>T (p.Thr359Ile)	BACH2 (T359I)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GUncertain significance
Select item 3030322	NM_021813.4(BACH2):c.1009T>C (p.Ser337Pro)	BACH2 (S337P)	Single nucleotide variant (missense variant)	BACH2-related disorder	GUncertain significance
Select item 3036856	NM_021813.4(BACH2):c.969A>C (p.Pro323=)	BACH2	Single nucleotide variant (synonymous variant)	BACH2-related disorder	GLikely benign
Select item 2629295	NM_021813.4(BACH2):c.931C>T (p.Arg311Trp)	BACH2 (R311W)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GUncertain significance
Select item 1642539	NM_021813.4(BACH2):c.729T>C (p.Tyr243=)	BACH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3037748	NM_021813.4(BACH2):c.589A>G (p.Ile197Val)	BACH2 (I197V)	Single nucleotide variant (missense variant)	BACH2-related disorder	GUncertain significance
Select item 734225	NM_021813.4(BACH2):c.583G>A (p.Ala195Thr)	BACH2 (A195T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1144214	NM_021813.4(BACH2):c.579G>A (p.Glu193=)	BACH2	Single nucleotide variant (synonymous variant)	BACH2-related disorder +1 more	GLikely benign
Select item 1556140	NM_021813.4(BACH2):c.452G>C (p.Arg151Pro)	BACH2 (R151P)	Single nucleotide variant (missense variant)	BACH2-related disorder +1 more	GBenign/Likely benign
Select item 1674916	NM_021813.4(BACH2):c.399C>G (p.Leu133=)	BACH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1166924	NM_021813.4(BACH2):c.168C>T (p.Ala56=)	BACH2	Single nucleotide variant (synonymous variant)	BACH2-related disorder +1 more	GBenign/Likely benign
Select item 778006	NM_021813.4(BACH2):c.15G>A (p.Glu5=)	BACH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 26