Related gene-specific medical variations for Gene (Select 29994) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352874	NM_013450.4(BAZ2B):c.996G>A (p.Ala332=)	BAZ2B, LOC126806391	Single nucleotide variant (synonymous variant)	BAZ2B-related disorder	GLikely benign
Select item 3342364	NM_013450.4(BAZ2B):c.4520C>T (p.Ser1507Leu)	BAZ2B, LOC126806390 (S1453L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260512	NM_013450.4(BAZ2B):c.4431G>C (p.Lys1477Asn)	BAZ2B, LOC126806390 (K1423N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133123	NM_013450.4(BAZ2B):c.962A>G (p.Gln321Arg)	BAZ2B, LOC126806391 (Q319R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133105	NM_013450.4(BAZ2B):c.4614G>C (p.Lys1538Asn)	BAZ2B, LOC126806390 (K1513N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133104	NM_013450.4(BAZ2B):c.4547C>T (p.Thr1516Met)	BAZ2B, LOC126806390 (T1462M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133103	NM_013450.4(BAZ2B):c.4466C>T (p.Pro1489Leu)	BAZ2B, LOC126806390 (P1453L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133102	NM_013450.4(BAZ2B):c.4444T>C (p.Ser1482Pro)	BAZ2B, LOC126806390 (S1446P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133101	NM_013450.4(BAZ2B):c.4420G>C (p.Glu1474Gln)	BAZ2B, LOC126806390 (E1438Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133083	NM_013450.4(BAZ2B):c.1219G>A (p.Asp407Asn)	BAZ2B, LOC126806391 (D407N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133082	NM_013450.4(BAZ2B):c.1216C>T (p.Pro406Ser)	BAZ2B, LOC126806391 (P406S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057082	NM_013450.4(BAZ2B):c.4863+5G>A	BAZ2B, LOC126806390	Single nucleotide variant (intron variant)	BAZ2B-related disorder	GBenign
Select item 3056795	NM_013450.4(BAZ2B):c.1265T>C (p.Leu422Ser)	BAZ2B, LOC126806391 (L359S +2 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GBenign
Select item 3052616	NM_013450.4(BAZ2B):c.4314T>C (p.Cys1438=)	BAZ2B, LOC126806390	Single nucleotide variant (synonymous variant)	BAZ2B-related disorder	GLikely benign
Select item 3051532	NM_013450.4(BAZ2B):c.1293+6T>A	BAZ2B, LOC126806391	Single nucleotide variant (intron variant)	BAZ2B-related disorder	GLikely benign
Select item 3050679	NM_013450.4(BAZ2B):c.4754C>T (p.Thr1585Ile)	BAZ2B, LOC126806390 (T1531I +3 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GUncertain significance
Select item 3042891	NM_013450.4(BAZ2B):c.4876G>C (p.Val1626Leu)	BAZ2B, LOC126806390 (V1572L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3042172	NM_013450.4(BAZ2B):c.4413G>A (p.Lys1471=)	BAZ2B, LOC126806390	Single nucleotide variant (synonymous variant)	BAZ2B-related disorder	GBenign
Select item 3040654	NM_013450.4(BAZ2B):c.4634A>G (p.Asn1545Ser)	BAZ2B, LOC126806390 (N1491S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2636627	NM_013450.4(BAZ2B):c.1133C>T (p.Thr378Met)	BAZ2B, LOC126806391 (T315M +2 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GUncertain significance
Select item 2633790	NM_013450.4(BAZ2B):c.4715C>A (p.Ser1572Ter)	BAZ2B, LOC126806390 (S1518* +3 more)	Single nucleotide variant (nonsense)	BAZ2B-related disorder	GUncertain significance
Select item 2631010	NM_013450.4(BAZ2B):c.1001A>T (p.Glu334Val)	BAZ2B, LOC126806391 (E271V +2 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GUncertain significance
Select item 2617972	NM_013450.4(BAZ2B):c.4936C>A (p.Pro1646Thr)	BAZ2B, LOC126806390 (P1610T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541127	NM_013450.4(BAZ2B):c.4355A>G (p.Glu1452Gly)	BAZ2B, LOC126806390 (E1427G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535459	NM_013450.4(BAZ2B):c.4490C>T (p.Thr1497Met)	BAZ2B, LOC126806390 (T1443M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523317	NM_013450.4(BAZ2B):c.4219G>C (p.Glu1407Gln)	BAZ2B, LOC126806390 (E1353Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2505367	NM_013450.4(BAZ2B):c.2T>C (p.Met1Thr)	BAZ2B (M1T)	Single nucleotide variant (missense variant +1 more)	BAZ2B-related disorder	GPathogenic
Select item 2505366	NM_013450.4(BAZ2B):c.3075+3_3075+6del	BAZ2B	Microsatellite (splice donor variant)	BAZ2B-related disorder	GLikely pathogenic
Select item 2505365	NM_013450.4(BAZ2B):c.2152C>T (p.Leu718Phe)	BAZ2B (L655F +2 more)	Single nucleotide variant (missense variant)	BAZ2B-related disorder	GLikely pathogenic
Select item 2505363	NM_013450.4(BAZ2B):c.1435del (p.His479fs)	BAZ2B (H416fs +2 more)	Deletion (frameshift variant)	BAZ2B-related disorder	GPathogenic
Select item 2505362	GRCh37/hg19 2q24.2(chr2:160229645-160357102)	BAZ2B	Copy number loss	BAZ2B-related disorder	GPathogenic
Select item 2502177	NM_013450.4(BAZ2B):c.1360del (p.Val454fs)	BAZ2B (V391fs +2 more)	Deletion (frameshift variant)	BAZ2B-related Neurodevelopmental disorder	GLikely pathogenic
Select item 2495312	NM_013450.4(BAZ2B):c.4399T>C (p.Ser1467Pro)	BAZ2B, LOC126806390 (S1431P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460091	NM_013450.4(BAZ2B):c.4432A>G (p.Met1478Val)	BAZ2B, LOC126806390 (M1424V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2458007	NM_013450.4(BAZ2B):c.1200A>C (p.Lys400Asn)	BAZ2B, LOC126806391 (K337N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2407850	NM_013450.4(BAZ2B):c.4282A>G (p.Met1428Val)	BAZ2B, LOC126806390 (M1392V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404137	NM_013450.4(BAZ2B):c.4556A>G (p.Asn1519Ser)	BAZ2B, LOC126806390 (N1483S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361867	NM_013450.4(BAZ2B):c.4413G>C (p.Lys1471Asn)	BAZ2B, LOC126806390 (K1435N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2252072	NM_013450.4(BAZ2B):c.4606C>A (p.Pro1536Thr)	BAZ2B, LOC126806390 (P1511T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233401	NM_013450.4(BAZ2B):c.4643T>C (p.Leu1548Ser)	BAZ2B, LOC126806390 (L1494S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220487	NM_013450.4(BAZ2B):c.4361A>T (p.Asp1454Val)	BAZ2B, LOC126806390 (D1418V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807740	GRCh37/hg19 2q24.2(chr2:160229645-160357102)x1	BAZ2B	Copy number loss	not provided	GPathogenic
Select item 1701713	NM_013450.4(BAZ2B):c.2255+10A>G	BAZ2B	Single nucleotide variant (intron variant)	BAZ2B-related Neurodevelopmental disorder	GUncertain significance
Select item 1679574	NM_013450.4(BAZ2B):c.687C>G (p.Ile229Met)	BAZ2B (I166M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676314	NM_001289975.1(BAZ2B):c.2705del (p.Ile902fs)	BAZ2B (I875fs +3 more)	Deletion	BAZ2B-related Neurodevelopmental disorder	GLikely pathogenic
Select item 1342425	NM_013450.4(BAZ2B):c.2563C>T (p.Arg855Ter)	BAZ2B (R792* +3 more)	Single nucleotide variant (nonsense)	BAZ2B-related Neurodevelopmental disorder	GUncertain significance
Select item 764984	NM_013450.4(BAZ2B):c.1017A>G (p.Ser339=)	BAZ2B, LOC126806391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727944	NM_013450.4(BAZ2B):c.4629C>T (p.Leu1543=)	BAZ2B, LOC126806390	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718271	NM_013450.4(BAZ2B):c.4508G>A (p.Ser1503Asn)	BAZ2B, LOC126806390 (S1449N +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688871	GRCh37/hg19 2q24.2(chr2:160246291-160406244)x3	BAZ2B	Copy number gain	not provided	GUncertain significance
Select item 687175	GRCh37/hg19 2q24.2(chr2:160267373-160560844)x1	BAZ2B	Copy number loss	not provided	GUncertain significance
Select item 562527	GRCh37/hg19 2q24.2(chr2:160337188-160491842)x1	BAZ2B	Copy number loss	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52