ClinVar for Gene (Select 8693) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2684680	GRCh37/hg19 12q21.33(chr12:89330254-90734509)x3	ATP2B1, DUSP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2643213	NM_003774.5(GALNT4):c.978G>A (p.Thr326=)	GALNT4, POC1B +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612219	NM_003774.5(GALNT4):c.19T>C (p.Trp7Arg)	LOC130008355, POC1B +2 more (W7R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550818	NM_003774.5(GALNT4):c.1184A>G (p.Tyr395Cys)	POC1B, POC1B-GALNT4 +1 more (Y223C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513197	NM_003774.5(GALNT4):c.106G>T (p.Ala36Ser)	GALNT4, POC1B +1 more (A36S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473380	NM_003774.5(GALNT4):c.50T>G (p.Phe17Cys)	GALNT4, POC1B +1 more (F17C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349716	NM_003774.5(GALNT4):c.1253G>A (p.Arg418Gln)	POC1B-GALNT4, POC1B +1 more (R246Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1514734	NC_000012.11:g.(?_88442961)_(89919672_?)dup	CEP290, DUSP6 +6 more	Duplication	not provided	GUncertain significance
Select item 833258	NC_000012.12:g.(?_88516334)_(89591295_?)del	ATP2B1, DUSP6 +4 more	Deletion	not provided	GPathogenic
Select item 773664	NM_003774.5(GALNT4):c.1546C>A (p.Gln516Lys)	GALNT4, POC1B +1 more (Q344K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 717686	NM_003774.5(GALNT4):c.786T>A (p.Asn262Lys)	GALNT4, POC1B +1 more (N262K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 666459	GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1	ATP2B1, C12orf29 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	CCER1, ATP2B1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 208386	NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)	GALNT4, POC1B +1 more	Single nucleotide variant (intron variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 151044	GRCh38/hg38 12q21.33(chr12:89366714-89530151)x1	GALNT4, LOC105369889 +7 more	Copy number loss	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22