ClinVar for Gene (Select 550) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333528	NM_181575.5(AUP1):c.313G>A (p.Val105Ile)	AUP1 (V105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333524	NM_181575.5(AUP1):c.401G>A (p.Gly134Glu)	AUP1 (G134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333522	NM_181575.5(AUP1):c.20C>T (p.Pro7Leu)	AUP1, HTRA2 (P7L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3333518	NM_181575.5(AUP1):c.984G>C (p.Leu328Phe)	AUP1 (L328F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333508	NM_181575.5(AUP1):c.155T>C (p.Val52Ala)	AUP1 (V52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333496	NM_181575.5(AUP1):c.58G>A (p.Gly20Ser)	AUP1, HTRA2 (G20S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132340	NM_181575.5(AUP1):c.803T>A (p.Met268Lys)	AUP1 (M268K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132339	NM_181575.5(AUP1):c.697C>G (p.Leu233Val)	AUP1 (L299V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132338	NM_181575.5(AUP1):c.458C>G (p.Pro153Arg)	AUP1 (P153R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132337	NM_181575.5(AUP1):c.44C>G (p.Ser15Trp)	AUP1, HTRA2 (S15W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132336	NM_181575.5(AUP1):c.212C>T (p.Ala71Val)	AUP1 (A71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132335	NM_181575.5(AUP1):c.1150G>A (p.Glu384Lys)	AUP1 (E384K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132334	NM_181575.5(AUP1):c.1006G>A (p.Gly336Arg)	AUP1 (G336R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2593467	NM_181575.5(AUP1):c.94G>T (p.Ala32Ser)	AUP1, HTRA2 (A32S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2589284	NM_181575.5(AUP1):c.799C>T (p.His267Tyr)	AUP1 (H333Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545271	NM_181575.5(AUP1):c.431G>T (p.Arg144Ile)	AUP1 (R144I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542836	NM_181575.5(AUP1):c.10C>G (p.Pro4Ala)	AUP1, HTRA2 (P4A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539953	NM_181575.5(AUP1):c.804G>A (p.Met268Ile)	AUP1 (M268I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539315	NM_181575.5(AUP1):c.919G>A (p.Val307Ile)	AUP1 (V373I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522756	NM_181575.5(AUP1):c.957C>A (p.Asp319Glu)	AUP1 (D319E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522573	NM_181575.5(AUP1):c.67T>G (p.Phe23Val)	AUP1, HTRA2 (F23V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2515293	NM_181575.5(AUP1):c.1012G>A (p.Val338Ile)	AUP1 (V404I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513656	NM_181575.5(AUP1):c.809G>A (p.Arg270Gln)	AUP1 (R270Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508307	NM_181575.5(AUP1):c.232C>T (p.Arg78Trp)	AUP1 (R78W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2459826	NM_181575.5(AUP1):c.667G>A (p.Val223Ile)	AUP1 (V223I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425831	NC_000002.11:g.(?_74753829)_(74757416_?)del	AUP1, HTRA2	Deletion	not provided	GPathogenic
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2410530	NM_181575.5(AUP1):c.518G>A (p.Arg173His)	AUP1 (R239H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393120	NM_181575.5(AUP1):c.895A>G (p.Thr299Ala)	AUP1 (T365A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379781	NM_181575.5(AUP1):c.398A>G (p.Asn133Ser)	AUP1 (N133S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326684	NM_181575.5(AUP1):c.1165C>T (p.Arg389Cys)	AUP1 (R455C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323336	NM_181575.5(AUP1):c.355C>A (p.Pro119Thr)	AUP1 (P119T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284291	NM_181575.5(AUP1):c.88C>T (p.Leu30Phe)	AUP1, HTRA2 (L30F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2232161	NM_181575.5(AUP1):c.76C>T (p.Leu26Phe)	AUP1, HTRA2 (L26F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2210449	NM_181575.5(AUP1):c.566C>T (p.Thr189Ile)	AUP1 (T255I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1261136	NC_000002.12:g.74529115G>A	AUP1, HTRA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1204115	NC_000002.12:g.74529387C>T	AUP1, HTRA2 (A55T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1202238	NC_000002.12:g.74529330C>T	AUP1, HTRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 897609	NM_013247.4(HTRA2):c.-324G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 896015	NM_013247.4(HTRA2):c.-361G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 896014	NM_013247.4(HTRA2):c.-504G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 896013	NM_013247.4(HTRA2):c.-598G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 337121	NM_013247.4(HTRA2):c.-314G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337120	NM_013247.4(HTRA2):c.-359G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337119	NM_013247.4(HTRA2):c.-363G>A	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 337118	NM_181575.5(AUP1):c.25C>T (p.Pro9Ser)	AUP1, HTRA2 (P9S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 337117	NM_013247.4(HTRA2):c.-547G>C	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 337116	NM_013247.4(HTRA2):c.-586G>C	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64