ClinVar for Gene (Select 85437) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334172	NM_033114.4(ZCRB1):c.386A>G (p.Glu129Gly)	ZCRB1 (E129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192576	NM_033114.4(ZCRB1):c.132T>A (p.Asp44Glu)	ZCRB1 (D44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2684671	GRCh37/hg19 12q12(chr12:42479450-42890970)x3	GXYLT1, PPHLN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2543068	NM_033114.4(ZCRB1):c.458A>G (p.Glu153Gly)	ZCRB1 (E153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253740	NM_033114.4(ZCRB1):c.469G>C (p.Asp157His)	ZCRB1 (D157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979961	GRCh37/hg19 12q12(chr12:40678619-43945453)x4	PRICKLE1, GXYLT1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 144217	GRCh38/hg38 12q12(chr12:41782886-42950380)x1	GXYLT1, LINC02402 +33 more	Copy number loss	See cases	GUncertain significance