Related gene-specific medical variations for Gene (Select 8573) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101872	NM_080817.5(GPR82):c.928C>A (p.Leu310Ile)	CASK, GPR82 (L310I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101871	NM_080817.5(GPR82):c.876C>G (p.Asn292Lys)	CASK, GPR82 (N292K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101870	NM_080817.5(GPR82):c.691A>G (p.Ile231Val)	GPR82, CASK (I231V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101869	NM_080817.5(GPR82):c.602T>C (p.Ile201Thr)	CASK, GPR82 (I201T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101868	NM_080817.5(GPR82):c.517T>C (p.Tyr173His)	CASK, GPR82 (Y173H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101867	NM_080817.5(GPR82):c.443A>G (p.Gln148Arg)	CASK, GPR82 (Q148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101727	NM_001097579.2(GPR34):c.8G>A (p.Ser3Asn)	CASK, GPR34 (S3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101726	NM_001097579.2(GPR34):c.796C>T (p.Arg266Cys)	CASK, GPR34 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101725	NM_001097579.2(GPR34):c.599A>G (p.Asn200Ser)	CASK, GPR34 (N200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062309	NM_001367721.1(CASK):c.173-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2920701	NM_001367721.1(CASK):c.1994A>G (p.Lys665Arg)	CASK (K665R +3 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920666	NC_000023.11:g.(41853228_41922929)(41923555_?)del	CASK	Deletion	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2660355	NM_001367721.1(CASK):c.429+11848A>G	CASK, GPR82	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2601026	NM_080817.5(GPR82):c.59T>C (p.Ile20Thr)	CASK, GPR82 (I20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582326	NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)	CASK (T558fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2576029	NM_001367721.1(CASK):c.282G>A (p.Met94Ile)	CASK (M94I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547308	NM_080817.5(GPR82):c.860T>C (p.Leu287Ser)	CASK, GPR82 (L287S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466972	NM_001097579.2(GPR34):c.146A>G (p.Asp49Gly)	CASK, GPR34 (D49G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441639	NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)	CASK (G197*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2439759	NM_001367721.1(CASK):c.2295C>A (p.Asp765Glu)	CASK (D736E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439757	NM_001367721.1(CASK):c.1737+7A>T	CASK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438847	NM_001367721.1(CASK):c.1565dup (p.Met523fs)	CASK (M517fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2429865	NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs)	CASK (I265fs)	Indel (frameshift variant)	Developmental disorder	GPathogenic
Select item 2429864	NM_001367721.1(CASK):c.497C>A (p.Ala166Asp)	CASK (A166D)	Single nucleotide variant (missense variant)	Developmental disorder	GPathogenic
Select item 2355677	NM_080817.5(GPR82):c.614T>C (p.Ile205Thr)	CASK, GPR82 (I205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337875	NM_080817.5(GPR82):c.397T>C (p.Cys133Arg)	CASK, GPR82 (C133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314126	NM_080817.5(GPR82):c.100A>T (p.Thr34Ser)	CASK, GPR82 (T34S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2251719	NM_080817.5(GPR82):c.949A>C (p.Lys317Gln)	CASK, GPR82 (K317Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676159	NM_080817.5(GPR82):c.399C>T (p.Cys133=)	CASK, GPR82	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1330235	NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln)	CASK (E783Q +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 1180515	GRCh37/hg19 Xp11.4(chrX:41700325-41826061)x1	CASK	Copy number loss	not provided	GPathogenic
Select item 987472	NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr)	CASK (C604Y +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 987471	NM_001367721.1(CASK):c.37G>T (p.Glu13Ter)	CASK (E13*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 979781	GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3	CASK	Copy number gain	not provided	GUncertain significance
Select item 975506	NM_001367721.1(CASK):c.1025C>T (p.Ala342Val)	CASK (A342V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 930346	NM_001367721.1(CASK):c.916-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	FG syndrome 4	GPathogenic
Select item 916508	NM_001367721.1(CASK):c.1843-2A>T	CASK	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 871196	NM_001367721.1(CASK):c.721C>T (p.Gln241Ter)	CASK (Q241*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 810580	NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter)	CASK (Y12*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 807884	GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1	CASK	Copy number loss	not provided	GUncertain significance
Select item 713839	NM_001097579.2(GPR34):c.888A>G (p.Val296=)	CASK, GPR34	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685802	GRCh37/hg19 Xp11.4(chrX:41439326-41538706)x3	CASK	Copy number gain	not provided	GUncertain significance
Select item 685469	GRCh37/hg19 Xp11.4(chrX:41708911-41713656)x1	CASK	Copy number loss	not provided	GPathogenic
Select item 585227	GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1	CASK	Copy number loss	not provided	Gnot provided
Select item 564833	GRCh37/hg19 Xp11.4(chrX:41760334-42078539)x3	CASK	Copy number gain	not provided	GUncertain significance
Select item 559631	NM_001367721.1(CASK):c.2040-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	CASK-related disorder	GPathogenic
Select item 523666	NM_001367721.1(CASK):c.2155+1G>C	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 445537	NM_080817.5(GPR82):c.678C>A (p.Ser226Arg)	CASK, GPR82 (S226R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 445354	NM_001367721.1(CASK):c.1033+1G>A	CASK	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 443361	GRCh37/hg19 Xp11.4(chrX:41708906-41713659)x1	CASK	Copy number loss	See cases	GPathogenic
Select item 439455	NM_001367721.1(CASK):c.1936A>G (p.Ile646Val)	CASK (I646V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377016	NM_080817.5(GPR82):c.554G>A (p.Ser185Asn)	CASK, GPR82 (S185N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 374802	NM_003688.3:c.116_117delCA	CASK	Deletion	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 253662	GRCh37/hg19 Xp11.4(chrX:41485589-41486197)x1	CASK	Copy number loss	See cases	GPathogenic
Select item 235298	NM_001097579.2(GPR34):c.884A>G (p.Asn295Ser)	GPR34, CASK (N295S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 161798	NM_080817.5(GPR82):c.482G>T (p.Gly161Val)	CASK, GPR82 (G161V)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 158075	NM_001367721.1(CASK):c.429+11419A>G	CASK, GPR82	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 155082	GRCh38/hg38 Xp11.4(chrX:41736613-41807412)x2	CASK	Copy number gain	See cases	GLikely pathogenic
Select item 149157	GRCh38/hg38 Xp11.4(chrX:41787211-41795764)x1	CASK	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 59