ClinVar for Gene (Select 25950) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315831	NM_015485.5(RWDD3):c.537A>G (p.Ile179Met)	RWDD3, TLCD4-RWDD3 (I179M +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3315830	NM_015485.5(RWDD3):c.697G>A (p.Ala233Thr)	RWDD3 (A233T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3157263	NM_015485.5(RWDD3):c.92A>G (p.Asp31Gly)	RWDD3, TLCD4-RWDD3 (D16G +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3157262	NM_015485.5(RWDD3):c.182A>G (p.Tyr61Cys)	RWDD3, TLCD4-RWDD3 (Y46C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3157261	NM_015485.5(RWDD3):c.138T>G (p.Asp46Glu)	RWDD3, TLCD4-RWDD3 (D46E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2621942	NM_015485.5(RWDD3):c.172C>T (p.Pro58Ser)	RWDD3, TLCD4-RWDD3 (P58S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2619820	NM_015485.5(RWDD3):c.391A>G (p.Thr131Ala)	RWDD3, TLCD4-RWDD3 (T131A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2559838	NM_015485.5(RWDD3):c.403A>G (p.Met135Val)	RWDD3, TLCD4-RWDD3 (M120V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2516088	NM_015485.5(RWDD3):c.26T>G (p.Leu9Arg)	LOC129930992, RWDD3 +1 more (L9R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2485055	NM_015485.5(RWDD3):c.220C>A (p.Gln74Lys)	RWDD3, TLCD4-RWDD3 (Q74K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2401433	NM_015485.5(RWDD3):c.149C>A (p.Pro50His)	RWDD3, TLCD4-RWDD3 (P35H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2300403	NM_015485.5(RWDD3):c.665C>T (p.Thr222Ile)	RWDD3 (T207I +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2253255	NM_015485.5(RWDD3):c.576G>C (p.Glu192Asp)	RWDD3 (V162L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244397	NM_015485.5(RWDD3):c.451G>A (p.Ala151Thr)	RWDD3, TLCD4-RWDD3 (A136T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2235326	NM_015485.5(RWDD3):c.206C>G (p.Ser69Trp)	RWDD3, TLCD4-RWDD3 (S54W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 814109	GRCh37/hg19 1p21.3(chr1:95638426-95750723)x1	TLCD4, RWDD3	Copy number loss	not provided	GUncertain significance
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565128	GRCh37/hg19 1p21.3(chr1:95554116-96359492)x3	TLCD4, RWDD3	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 152762	GRCh38/hg38 1p21.3(chr1:95230768-95286879)x1	LOC129930992, LOC129930993 +3 more	Copy number loss	See cases	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26