6533[geneid] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 2555103	NM_003043.6(SLC6A6):c.68G>C (p.Gly23Ala)	SLC6A6 (G124A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470237	NM_003043.6(SLC6A6):c.116C>T (p.Pro39Leu)	SLC6A6 (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 809434	NM_003043.6(SLC6A6):c.145G>A (p.Asp49Asn)	SLC6A6 (D150N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870335	NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu)	SLC6A6 (A78E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal degeneration	GLikely pathogenic
Select item 3165477	NM_003043.6(SLC6A6):c.340G>A (p.Glu114Lys)	SLC6A6 (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234140	NM_003043.6(SLC6A6):c.382G>A (p.Val128Ile)	SLC6A6 (V128I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2247233	NM_003043.6(SLC6A6):c.389T>C (p.Ile130Thr)	SLC6A6 (I130T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557054	NM_003043.6(SLC6A6):c.530G>A (p.Arg177His)	SLC6A6 (R278H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241456	NM_003043.6(SLC6A6):c.558C>G (p.Ile186Met)	SLC6A6 (I186M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165478	NM_003043.6(SLC6A6):c.563C>A (p.Ser188Tyr)	SLC6A6 (S289Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165479	NM_003043.6(SLC6A6):c.715G>A (p.Val239Ile)	SLC6A6 (V340I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474055	NM_003043.6(SLC6A6):c.722C>G (p.Ser241Cys)	SLC6A6 (S241C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165480	NM_003043.6(SLC6A6):c.814G>A (p.Ala272Thr)	SLC6A6 (A373T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165481	NM_003043.6(SLC6A6):c.933G>A (p.Ser311=)	SLC6A6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2481100	NM_003043.6(SLC6A6):c.1075A>G (p.Ile359Val)	SLC6A6 (I460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535631	NM_003043.6(SLC6A6):c.1109C>T (p.Ala370Val)	SLC6A6 (A471V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 870334	NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val)	SLC6A6 (G500V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal degeneration	GLikely pathogenic
Select item 2231562	NM_003043.6(SLC6A6):c.1312A>C (p.Ile438Leu)	SLC6A6 (I438L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617750	NM_003043.6(SLC6A6):c.1355T>G (p.Met452Arg)	SLC6A6 (M452R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621317	NM_003043.6(SLC6A6):c.1483A>G (p.Met495Val)	SLC6A6 (M495V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165472	NM_003043.6(SLC6A6):c.1495C>T (p.Arg499Trp)	SLC6A6 (R600W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165473	NM_003043.6(SLC6A6):c.1525G>A (p.Ala509Thr)	SLC6A6 (A509T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325721	NM_003043.6(SLC6A6):c.1573G>A (p.Val525Ile)	SLC6A6 (V525I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165474	NM_003043.6(SLC6A6):c.1582G>A (p.Val528Ile)	SLC6A6 (V528I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385368	NM_003043.6(SLC6A6):c.1616C>G (p.Pro539Arg)	SLC6A6 (P539R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165475	NM_003043.6(SLC6A6):c.1760G>A (p.Arg587His)	SLC6A6 (R587H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320162	NM_003043.6(SLC6A6):c.1775G>A (p.Arg592His)	SLC6A6 (R693H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261694	NM_003043.6(SLC6A6):c.1790C>T (p.Pro597Leu)	SLC6A6 (P698L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238399	NM_003043.6(SLC6A6):c.1801C>G (p.Arg601Gly)	SLC6A6 (R601G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405731	NM_003043.6(SLC6A6):c.1802G>A (p.Arg601His)	SLC6A6 (R601H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165476	NM_003043.6(SLC6A6):c.1807G>A (p.Val603Ile)	SLC6A6 (V704I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588066	NM_003043.6(SLC6A6):c.1814A>G (p.Asn605Ser)	SLC6A6 (N605S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400900	NM_003043.6(SLC6A6):c.1816G>A (p.Gly606Ser)	SLC6A6 (G707S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 974750	NC_000003.11:g.14406477_14509088dup	SLC6A6	Duplication	Megacolon	GLikely pathogenic
Select item 562757	GRCh37/hg19 3p25.1(chr3:14283860-14552127)x3	SLC6A6, GRIP2	Copy number gain	not provided	GLikely benign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 56