ClinVar for Gene (Select 4602) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3052166	NM_001130173.2(MYB):c.1892G>A (p.Gly631Glu)	MYB (G425E +6 more)	Single nucleotide variant (missense variant +1 more)	MYB-related condition	GLikely benign
Select item 3046621	NM_001130173.2(MYB):c.330C>T (p.Tyr110=)	MYB	Single nucleotide variant (synonymous variant +1 more)	MYB-related condition	GLikely benign
Select item 3045316	NM_001130173.2(MYB):c.1083T>G (p.Pro361=)	MYB	Single nucleotide variant (synonymous variant +2 more)	MYB-related condition	GLikely benign
Select item 3037450	NM_001130173.2(MYB):c.2271G>A (p.Arg757=)	MYB	Single nucleotide variant (synonymous variant +1 more)	MYB-related condition	GBenign
Select item 3035642	NM_001130173.2(MYB):c.1886A>C (p.Glu629Ala)	MYB (E423A +6 more)	Single nucleotide variant (missense variant +1 more)	MYB-related condition	GLikely benign
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2656924	NM_001130173.2(MYB):c.2121C>T (p.Leu707=)	MYB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636840	NM_001130173.2(MYB):c.532del (p.Asp178fs)	MYB (D178fs)	Deletion (frameshift variant +1 more)	MYB-related condition	GUncertain significance
Select item 2622055	NM_001130173.2(MYB):c.2098T>A (p.Ser700Thr)	MYB (S542T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606435	NM_001130173.2(MYB):c.2031C>A (p.Phe677Leu)	MYB (F471L +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2601420	NM_001130173.2(MYB):c.966C>G (p.Cys322Trp)	MYB (C287W +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2571261	NM_001130173.2(MYB):c.533A>G (p.Asp178Gly)	MYB (D178G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2544406	NM_001130173.2(MYB):c.1242C>A (p.Phe414Leu)	MYB (F414L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516951	NM_001130173.2(MYB):c.2201G>A (p.Cys734Tyr)	MYB (C718Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481588	NM_001130173.2(MYB):c.1472C>A (p.Ala491Asp)	MYB (A488D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476198	NM_001130173.2(MYB):c.1937A>G (p.Lys646Arg)	MYB (K525R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473979	NM_001130173.2(MYB):c.2234G>C (p.Ser745Thr)	MYB (S621T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458957	NM_001130173.2(MYB):c.832G>A (p.Ala278Thr)	MYB (A278T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411419	NM_001130173.2(MYB):c.1631C>A (p.Pro544His)	MYB (P420H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310693	NM_001130173.2(MYB):c.1778A>G (p.His593Arg)	MYB (H387R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289108	NM_001130173.2(MYB):c.1677C>A (p.Asp559Glu)	MYB (D353E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236319	NM_001130173.2(MYB):c.12A>C (p.Arg4Ser)	MYB (R4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206745	NM_001130173.2(MYB):c.1303C>A (p.Gln435Lys)	MYB (Q435K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 786888	NM_001130173.2(MYB):c.1825-6G>T	MYB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786099	NM_001130173.2(MYB):c.1122C>T (p.Cys374=)	MYB	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 785188	NM_001130173.2(MYB):c.1213T>C (p.Ser405Pro)	MYB (S405P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777404	NM_001130173.2(MYB):c.1767A>G (p.Thr589=)	MYB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 777172	NM_001130173.2(MYB):c.750T>C (p.Ser250=)	MYB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 735136	NM_001130173.2(MYB):c.915C>T (p.Thr305=)	MYB	Single nucleotide variant (synonymous variant +2 more)	MYB-related condition +1 more	GBenign/Likely benign
Select item 734816	NM_001130173.2(MYB):c.1902T>C (p.Ala634=)	MYB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734815	NM_001130173.2(MYB):c.1776A>G (p.Lys592=)	MYB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 730684	NM_001130173.2(MYB):c.1007C>T (p.Thr336Ile)	MYB (T336I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 716353	NM_001130173.2(MYB):c.214-10_214-7del	MYB	Deletion (intron variant)	not provided	GBenign
Select item 708438	NM_001130173.2(MYB):c.1628C>A (p.Thr543Asn)	MYB (T543N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 495140	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495139	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495138	t(6;9)(q23.3;p22.3)	NFIB, MYB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495137	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52