25916[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2218785	NM_033088.4(STRIP1):c.37G>T (p.Val13Leu)	LOC129931127, STRIP1 (V13L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287885	NM_033088.4(STRIP1):c.58C>T (p.Pro20Ser)	LOC129931128, STRIP1 (P20S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171626	NM_033088.4(STRIP1):c.74C>A (p.Pro25Gln)	LOC129931128, STRIP1 (P25Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171619	NM_033088.4(STRIP1):c.188C>T (p.Ser63Leu)	STRIP1 (S63L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 771312	NM_033088.4(STRIP1):c.267G>A (p.Thr89=)	STRIP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2358622	NM_033088.4(STRIP1):c.317G>A (p.Arg106Gln)	STRIP1 (R106Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217904	NM_033088.4(STRIP1):c.355A>G (p.Thr119Ala)	STRIP1 (T119A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368976	NM_033088.4(STRIP1):c.367C>T (p.Arg123Trp)	STRIP1 (R28W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323418	NM_033088.4(STRIP1):c.410C>T (p.Ala137Val)	STRIP1 (A42V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475986	NM_033088.4(STRIP1):c.420G>T (p.Lys140Asn)	STRIP1 (K45N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171623	NM_033088.4(STRIP1):c.437G>A (p.Arg146Gln)	STRIP1 (R146Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533502	NM_033088.4(STRIP1):c.449A>G (p.Tyr150Cys)	STRIP1 (Y150C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457626	NM_033088.4(STRIP1):c.464C>T (p.Thr155Met)	STRIP1 (T155M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171624	NM_033088.4(STRIP1):c.519C>G (p.Ile173Met)	STRIP1 (I173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543435	NM_033088.4(STRIP1):c.548A>G (p.Asn183Ser)	STRIP1 (N183S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560830	NM_033088.4(STRIP1):c.592G>A (p.Ala198Thr)	STRIP1 (A198T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 930957	NM_033088.4(STRIP1):c.650+10G>A	STRIP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2520317	NM_033088.4(STRIP1):c.678A>G (p.Ile226Met)	STRIP1 (I131M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225335	NM_033088.4(STRIP1):c.688G>A (p.Val230Ile)	STRIP1 (V230I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171625	NM_033088.4(STRIP1):c.733C>T (p.Arg245Trp)	STRIP1 (R245W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612075	NM_033088.4(STRIP1):c.734G>A (p.Arg245Gln)	STRIP1 (R150Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244929	NM_033088.4(STRIP1):c.746G>T (p.Arg249Ile)	STRIP1 (R154I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244930	NM_033088.4(STRIP1):c.747A>T (p.Arg249Ser)	STRIP1 (R154S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323417	NM_033088.4(STRIP1):c.815A>G (p.Lys272Arg)	STRIP1 (K177R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404121	NM_033088.4(STRIP1):c.919A>G (p.Met307Val)	STRIP1 (M307V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538293	NM_033088.4(STRIP1):c.955C>A (p.Pro319Thr)	STRIP1 (P224T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523967	NM_033088.4(STRIP1):c.986G>A (p.Arg329His)	STRIP1 (R234H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711301	NM_033088.4(STRIP1):c.1053C>A (p.Gly351=)	STRIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3323421	NM_033088.4(STRIP1):c.1322G>A (p.Arg441His)	STRIP1 (R441H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171616	NM_033088.4(STRIP1):c.1427C>T (p.Thr476Met)	STRIP1 (T476M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323422	NM_033088.4(STRIP1):c.1459G>A (p.Glu487Lys)	STRIP1 (E392K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171617	NM_033088.4(STRIP1):c.1472G>A (p.Arg491His)	STRIP1 (R396H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305566	NM_033088.4(STRIP1):c.1523C>T (p.Thr508Ile)	STRIP1 (T413I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252960	NM_033088.4(STRIP1):c.1604C>T (p.Ser535Leu)	STRIP1 (S440L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323423	NM_033088.4(STRIP1):c.1673T>G (p.Leu558Trp)	STRIP1 (L558W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521890	NM_033088.4(STRIP1):c.1799T>C (p.Met600Thr)	STRIP1 (M600T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171618	NM_033088.4(STRIP1):c.1823A>G (p.Asn608Ser)	STRIP1 (N608S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171620	NM_033088.4(STRIP1):c.1895C>G (p.Ser632Cys)	STRIP1 (S537C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559976	NM_033088.4(STRIP1):c.1900C>G (p.Leu634Val)	STRIP1 (L634V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223521	NM_033088.4(STRIP1):c.1903G>A (p.Asp635Asn)	STRIP1 (D635N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545057	NM_033088.4(STRIP1):c.2000C>T (p.Ser667Phe)	STRIP1 (S667F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402009	NM_033088.4(STRIP1):c.2009A>G (p.Asn670Ser)	STRIP1 (N670S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258711	NM_033088.4(STRIP1):c.2119G>A (p.Ala707Thr)	STRIP1 (A612T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323419	NM_033088.4(STRIP1):c.2131C>T (p.Leu711Phe)	STRIP1 (L711F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263250	NM_033088.4(STRIP1):c.2176C>T (p.Arg726Trp)	STRIP1 (R631W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782910	NM_033088.4(STRIP1):c.2266+10T>C	STRIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3323420	NM_033088.4(STRIP1):c.2278C>T (p.Arg760Trp)	STRIP1 (R665W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312104	NM_033088.4(STRIP1):c.2318C>T (p.Ala773Val)	STRIP1 (A678V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591769	NM_033088.4(STRIP1):c.2338G>A (p.Ala780Thr)	STRIP1 (A685T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254045	NM_033088.4(STRIP1):c.2438T>G (p.Phe813Cys)	STRIP1 (F718C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 686929	GRCh37/hg19 1p13.3(chr1:110295035-110587956)x1	AHCYL1, CSF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
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

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Items: 69