ClinVar for Gene (Select 148534) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177768	NM_152487.3(TLCD4):c.608A>T (p.Tyr203Phe)	RWDD3-DT, TLCD4 +1 more (Y203F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177767	NM_152487.3(TLCD4):c.604G>A (p.Val202Met)	RWDD3-DT, TLCD4 +1 more (V202M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177766	NM_152487.3(TLCD4):c.574A>G (p.Met192Val)	RWDD3-DT, TLCD4 +1 more (M192V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177765	NM_152487.3(TLCD4):c.559G>A (p.Val187Met)	RWDD3-DT, TLCD4 +1 more (V187M)	Single nucleotide variant (missense variant +1 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 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	ANGPTL7, C1orf127 +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic