GALNT4[gene] - ClinVar

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

Search results

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	FERRY3, FGD4 +4837 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55