GALNT9[gene] - ClinVar

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

Search results

Items: 21

	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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 2689110	NM_001122636.2(GALNT9):c.1216_1219del (p.Asp406fs)	GALNT9 (D406fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2643635	NM_001122636.2(GALNT9):c.1144A>T (p.Arg382Trp)	GALNT9 (R16W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2500706	NC_000012.12:g.132237283_132491257dup	FBRSL1, GALNT9 +16 more	Duplication	not specified	GUncertain significance
Select item 2643636	NM_001122636.2(GALNT9):c.1077+7232A>T	GALNT9, LOC110599568	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3098244	NM_001122636.2(GALNT9):c.664C>T (p.Arg222Trp)	GALNT9 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312846	NM_001122636.2(GALNT9):c.553G>A (p.Glu185Lys)	GALNT9 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048038	NM_001122636.2(GALNT9):c.420-59_437del	GALNT9	Deletion (splice acceptor variant)	GALNT9-related disorder	GLikely benign
Select item 2386639	NM_001122636.2(GALNT9):c.241C>A (p.Leu81Ile)	GALNT9 (L81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357611	NM_001122636.2(GALNT9):c.211G>C (p.Glu71Gln)	GALNT9 (E71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280659	NM_001122636.2(GALNT9):c.134G>A (p.Arg45His)	GALNT9 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491613	NM_001122636.2(GALNT9):c.101C>T (p.Ser34Phe)	GALNT9 (S34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480527	NM_001122636.2(GALNT9):c.80A>C (p.Tyr27Ser)	GALNT9 (Y27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 21