BAZ1A-AS1[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	AKAP6, AP4S1 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 3133024	NM_013448.3(BAZ1A):c.106C>T (p.His36Tyr)	BAZ1A, BAZ1A-AS1 (H36Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644162	NM_013448.3(BAZ1A):c.93C>T (p.Asn31=)	BAZ1A, BAZ1A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3133038	NM_013448.3(BAZ1A):c.92A>G (p.Asn31Ser)	BAZ1A, BAZ1A-AS1 (N31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232296	NM_013448.3(BAZ1A):c.67G>C (p.Glu23Gln)	BAZ1A, BAZ1A-AS1 (E23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636418	NM_013448.3(BAZ1A):c.38A>C (p.Lys13Thr)	BAZ1A, BAZ1A-AS1 (K13T)	Single nucleotide variant (missense variant +1 more)	BAZ1A-related condition	GUncertain significance