4126[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +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 3098181	NM_003774.5(GALNT4):c.1697A>G (p.Asp566Gly)	GALNT4, POC1B +1 more (D394G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098180	NM_003774.5(GALNT4):c.1672C>T (p.Pro558Ser)	GALNT4, POC1B +1 more (P555S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098179	NM_003774.5(GALNT4):c.1670G>A (p.Arg557Gln)	GALNT4, POC1B +1 more (R385Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098178	NM_003774.5(GALNT4):c.1655G>A (p.Arg552Gln)	GALNT4, POC1B +1 more (R380Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098177	NM_003774.5(GALNT4):c.1643T>C (p.Leu548Pro)	GALNT4, POC1B +1 more (L376P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3098176	NM_003774.5(GALNT4):c.1432C>T (p.His478Tyr)	GALNT4, POC1B +1 more (H306Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098175	NM_003774.5(GALNT4):c.1349G>T (p.Ser450Ile)	GALNT4, POC1B +1 more (S447I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098174	NM_003774.5(GALNT4):c.1348A>G (p.Ser450Gly)	GALNT4, POC1B +1 more (S278G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098173	NM_003774.5(GALNT4):c.1344T>G (p.Ile448Met)	GALNT4, POC1B +1 more (I445M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098172	NM_003774.5(GALNT4):c.1332G>T (p.Trp444Cys)	GALNT4, POC1B +1 more (W272C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098171	NM_003774.5(GALNT4):c.1300A>G (p.Asn434Asp)	GALNT4, POC1B +1 more (N262D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349716	NM_001199781.2(POC1B-GALNT4):c.1244G>A (p.Arg415Gln)	GALNT4, POC1B +1 more (R246Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208386	NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)	GALNT4, POC1B +1 more	Single nucleotide variant (synonymous variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 2550818	NM_003774.5(GALNT4):c.1184A>G (p.Tyr395Cys)	GALNT4, POC1B +1 more (Y223C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098166	NM_003774.5(GALNT4):c.1100G>A (p.Arg367Gln)	GALNT4, POC1B +1 more (R195Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098165	NM_003774.5(GALNT4):c.1097A>G (p.Lys366Arg)	GALNT4, POC1B +1 more (K194R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098196	NM_003774.5(GALNT4):c.985A>G (p.Thr329Ala)	GALNT4, POC1B +1 more (T326A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3098195	NM_003774.5(GALNT4):c.824T>C (p.Ile275Thr)	GALNT4, POC1B +1 more (I272T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3098194	NM_003774.5(GALNT4):c.767T>C (p.Ile256Thr)	GALNT4, POC1B +1 more (I256T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098193	NM_003774.5(GALNT4):c.718C>G (p.Leu240Val)	GALNT4, POC1B +1 more (L237V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098192	NM_003774.5(GALNT4):c.664G>A (p.Val222Ile)	GALNT4, POC1B +1 more (V222I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098191	NM_003774.5(GALNT4):c.625A>G (p.Arg209Gly)	GALNT4, POC1B +1 more (R206G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098190	NM_003774.5(GALNT4):c.617G>A (p.Gly206Glu)	GALNT4, POC1B +1 more (G206E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098189	NM_003774.5(GALNT4):c.586G>C (p.Val196Leu)	GALNT4, POC1B +1 more (V193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098188	NM_003774.5(GALNT4):c.529A>T (p.Ser177Cys)	GALNT4, POC1B +1 more (S174C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098187	NM_003774.5(GALNT4):c.435C>G (p.Asn145Lys)	GALNT4, POC1B +1 more (N142K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098186	NM_003774.5(GALNT4):c.422T>C (p.Ile141Thr)	GALNT4, POC1B +1 more (I138T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098185	NM_003774.5(GALNT4):c.380A>G (p.Gln127Arg)	GALNT4, POC1B +1 more (Q127R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098184	NM_003774.5(GALNT4):c.359G>C (p.Arg120Thr)	POC1B-GALNT4, GALNT4 +1 more (R117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098183	NM_003774.5(GALNT4):c.353A>T (p.Asp118Val)	GALNT4, POC1B +1 more (D118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098182	NM_003774.5(GALNT4):c.296G>T (p.Arg99Ile)	GALNT4, POC1B +1 more (R96I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098170	NM_003774.5(GALNT4):c.126G>T (p.Arg42Ser)	GALNT4, POC1B +1 more (R39S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098169	NM_003774.5(GALNT4):c.124A>G (p.Arg42Gly)	GALNT4, POC1B +1 more (R39G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098168	NM_003774.5(GALNT4):c.122C>T (p.Ala41Val)	GALNT4, POC1B +1 more (A41V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098167	NM_003774.5(GALNT4):c.118C>A (p.Arg40Ser)	GALNT4, POC1B +1 more (R37S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3280627	NM_003774.5(GALNT4):c.41T>C (p.Leu14Pro)	GALNT4, POC1B +1 more (L14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612219	NM_003774.5(GALNT4):c.19T>C (p.Trp7Arg)	GALNT4, LOC130008355 +2 more (W7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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, C12orf50 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	ATP2B1, C12orf50 +13 more	Copy number loss	not provided	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

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Items: 55