ClinVar for Gene (Select 50614) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3098244	NM_001122636.2(GALNT9):c.664C>T (p.Arg222Trp)	GALNT9 (R222W)	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 2689110	NM_001122636.2(GALNT9):c.1216_1219del (p.Asp406fs)	GALNT9 (D406fs +1 more)	Microsatellite (frameshift variant)	not provided	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 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 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
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 2312846	NM_001122636.2(GALNT9):c.553G>A (p.Glu185Lys)	GALNT9 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 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 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 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 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 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

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Links from Gene

Items: 21