ClinVar for Gene (Select 26133) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329182	NM_015638.3(TRPC4AP):c.2099G>A (p.Arg700Gln)	TRPC4AP (R700Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329181	NM_015638.3(TRPC4AP):c.29C>T (p.Ser10Phe)	TRPC4AP (S10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329180	NM_015638.3(TRPC4AP):c.32G>C (p.Gly11Ala)	TRPC4AP (G11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329179	NM_015638.3(TRPC4AP):c.77G>A (p.Gly26Asp)	LOC130065744, TRPC4AP (G26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3183243	NM_015638.3(TRPC4AP):c.862C>G (p.Gln288Glu)	TRPC4AP (Q288E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183242	NM_015638.3(TRPC4AP):c.35C>T (p.Ala12Val)	TRPC4AP (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183241	NM_015638.3(TRPC4AP):c.235C>T (p.Leu79Phe)	TRPC4AP (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183239	NM_015638.3(TRPC4AP):c.1535G>C (p.Arg512Thr)	TRPC4AP (R504T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183237	NM_015638.3(TRPC4AP):c.124C>T (p.Arg42Trp)	LOC130065744, TRPC4AP (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067204	NM_015638.3(TRPC4AP):c.1764G>A (p.Glu588=)	TRPC4AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652278	NM_015638.3(TRPC4AP):c.177G>A (p.Glu59=)	TRPC4AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620743	NM_015638.3(TRPC4AP):c.350G>C (p.Arg117Thr)	TRPC4AP (R117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618191	NM_015638.3(TRPC4AP):c.2269A>C (p.Ser757Arg)	TRPC4AP (S749R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602944	NM_015638.3(TRPC4AP):c.1148A>T (p.His383Leu)	TRPC4AP (H375L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549645	NM_015638.3(TRPC4AP):c.167A>G (p.Gln56Arg)	LOC130065744, TRPC4AP (Q56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545936	NM_015638.3(TRPC4AP):c.1149T>G (p.His383Gln)	TRPC4AP (H375Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519750	NM_015638.3(TRPC4AP):c.794C>T (p.Thr265Met)	TRPC4AP (T265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519435	NM_015638.3(TRPC4AP):c.2338G>A (p.Val780Ile)	TRPC4AP (V780I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508783	NM_015638.3(TRPC4AP):c.157C>T (p.Arg53Trp)	LOC130065744, TRPC4AP (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496200	NM_015638.3(TRPC4AP):c.743T>C (p.Ile248Thr)	TRPC4AP (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483114	NM_015638.3(TRPC4AP):c.29C>G (p.Ser10Cys)	TRPC4AP (S10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472171	NM_015638.3(TRPC4AP):c.1961G>A (p.Arg654His)	TRPC4AP (R646H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470890	NM_015638.3(TRPC4AP):c.1800C>G (p.Phe600Leu)	TRPC4AP (F600L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393635	NM_015638.3(TRPC4AP):c.1106C>T (p.Thr369Met)	TRPC4AP (T369M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390161	NM_015638.3(TRPC4AP):c.47G>C (p.Arg16Thr)	TRPC4AP (R16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386217	NM_015638.3(TRPC4AP):c.938C>T (p.Thr313Met)	TRPC4AP (T313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381478	NM_015638.3(TRPC4AP):c.1975A>G (p.Ile659Val)	TRPC4AP (I651V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366880	NM_015638.3(TRPC4AP):c.1136T>C (p.Met379Thr)	TRPC4AP (M371T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361001	NM_015638.3(TRPC4AP):c.5C>T (p.Ala2Val)	TRPC4AP (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358168	NM_015638.3(TRPC4AP):c.1204C>T (p.Arg402Cys)	TRPC4AP (R402C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350466	NM_015638.3(TRPC4AP):c.40C>G (p.Arg14Gly)	TRPC4AP (R14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339452	NM_015638.3(TRPC4AP):c.161C>A (p.Ala54Glu)	LOC130065744, TRPC4AP (A54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333647	NM_015638.3(TRPC4AP):c.173C>T (p.Thr58Ile)	TRPC4AP (T58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330528	NM_015638.3(TRPC4AP):c.451A>C (p.Ile151Leu)	TRPC4AP (I151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327991	NM_015638.3(TRPC4AP):c.1135A>G (p.Met379Val)	TRPC4AP (M371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309706	NM_015638.3(TRPC4AP):c.1718G>C (p.Cys573Ser)	TRPC4AP (C565S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292305	NM_015638.3(TRPC4AP):c.158G>T (p.Arg53Leu)	LOC130065744, TRPC4AP (R53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283020	NM_015638.3(TRPC4AP):c.1994A>G (p.Gln665Arg)	TRPC4AP (Q665R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282315	NM_015638.3(TRPC4AP):c.1059T>G (p.Ile353Met)	TRPC4AP (I353M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277769	NM_015638.3(TRPC4AP):c.728C>G (p.Ala243Gly)	TRPC4AP (A243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270184	NM_015638.3(TRPC4AP):c.393T>G (p.Phe131Leu)	TRPC4AP (F131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261642	NM_015638.3(TRPC4AP):c.68C>T (p.Ala23Val)	TRPC4AP (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259552	NM_015638.3(TRPC4AP):c.836T>C (p.Leu279Ser)	TRPC4AP (L279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236603	NM_015638.3(TRPC4AP):c.552G>C (p.Leu184Phe)	TRPC4AP (L184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231379	NM_015638.3(TRPC4AP):c.1507G>A (p.Asp503Asn)	TRPC4AP (D495N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 60