PDE7A[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 3210777	NM_001242318.3(PDE7A):c.1442T>C (p.Leu481Ser)	MTFR1, PDE7A (L455S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354779	NM_001242318.3(PDE7A):c.1427C>T (p.Pro476Leu)	MTFR1, PDE7A (P476L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210776	NM_001242318.3(PDE7A):c.1399G>A (p.Ala467Thr)	MTFR1, PDE7A (A441T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316764	NM_001242318.3(PDE7A):c.1397C>A (p.Ala466Asp)	MTFR1, PDE7A (A440D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543428	NM_001242318.3(PDE7A):c.1276A>G (p.Thr426Ala)	MTFR1, PDE7A (T400A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540598	NM_001242318.3(PDE7A):c.1267C>A (p.Pro423Thr)	MTFR1, PDE7A (P397T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273974	NM_001242318.3(PDE7A):c.1267C>G (p.Pro423Ala)	MTFR1, PDE7A (P423A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547433	NM_001242318.3(PDE7A):c.1214A>G (p.His405Arg)	MTFR1, PDE7A (H379R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385152	NM_001242318.3(PDE7A):c.1213C>T (p.His405Tyr)	MTFR1, PDE7A (H379Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535613	NM_001242318.3(PDE7A):c.1211G>A (p.Arg404His)	MTFR1, PDE7A (R378H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344841	NM_001242318.3(PDE7A):c.1210C>T (p.Arg404Cys)	MTFR1, PDE7A (R378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467209	NM_001242318.3(PDE7A):c.1199C>T (p.Pro400Leu)	MTFR1, PDE7A (P374L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408418	NM_001242318.3(PDE7A):c.1180T>A (p.Tyr394Asn)	MTFR1, PDE7A (Y368N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262570	NM_001242318.3(PDE7A):c.1069G>A (p.Ala357Thr)	MTFR1, PDE7A (A331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210779	NM_001242318.3(PDE7A):c.928A>G (p.Met310Val)	MTFR1, PDE7A (M310V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210778	NM_001242318.3(PDE7A):c.628C>T (p.Pro210Ser)	MTFR1, PDE7A (P184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213973	NM_001242318.3(PDE7A):c.601A>G (p.Ile201Val)	MTFR1, PDE7A (I175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315634	NM_001242318.3(PDE7A):c.521C>T (p.Thr174Ile)	MTFR1, PDE7A (T148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477603	NM_001242318.3(PDE7A):c.469G>C (p.Asp157His)	MTFR1, PDE7A (D131H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319617	NM_001242318.3(PDE7A):c.358T>A (p.Ser120Thr)	MTFR1, PDE7A (S120T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1809323	GRCh37/hg19 8q12.3-13.1(chr8:64049070-66671663)x1	ARMC1, BHLHE22 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808771	GRCh37/hg19 8q13.1(chr8:66691197-67071982)x1	DNAJC5B, PDE7A +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527438	GRCh37/hg19 8q13.1(chr8:66691196-67071911)	DNAJC5B, PDE7A +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 687977	GRCh37/hg19 8q13.1(chr8:66320808-66641126)x3	ARMC1, MTFR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 563478	GRCh37/hg19 8q13.1(chr8:66403054-66705320)x3	MTFR1, PDE7A +1 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic

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Items: 49