ClinVar for Gene (Select 100874032) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310612	NM_207351.5(PRRT3):c.523G>A (p.Glu175Lys)	PRRT3, PRRT3-AS1 (E175K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310609	NM_207351.5(PRRT3):c.1208A>G (p.His403Arg)	PRRT3, PRRT3-AS1 (H403R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310608	NM_207351.5(PRRT3):c.307C>G (p.Gln103Glu)	PRRT3, PRRT3-AS1 (Q103E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310607	NM_207351.5(PRRT3):c.1077G>T (p.Glu359Asp)	PRRT3, PRRT3-AS1 (E359D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310606	NM_207351.5(PRRT3):c.1057C>T (p.Arg353Trp)	PRRT3, PRRT3-AS1 (R353W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310605	NM_207351.5(PRRT3):c.1169C>T (p.Pro390Leu)	PRRT3, PRRT3-AS1 (P390L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219753	NM_207351.5(PRRT3):c.955C>T (p.Pro319Ser)	PRRT3, PRRT3-AS1 (P319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219752	NM_207351.5(PRRT3):c.905C>T (p.Ser302Phe)	PRRT3, PRRT3-AS1 (S302F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219751	NM_207351.5(PRRT3):c.582C>A (p.Ser194Arg)	PRRT3, PRRT3-AS1 (S194R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219744	NM_207351.5(PRRT3):c.212G>A (p.Arg71Lys)	PRRT3, PRRT3-AS1 (R71K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219742	NM_207351.5(PRRT3):c.185C>T (p.Pro62Leu)	PRRT3, PRRT3-AS1 (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219741	NM_207351.5(PRRT3):c.1534G>T (p.Val512Leu)	PRRT3, PRRT3-AS1 (V512L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219740	NM_207351.5(PRRT3):c.1400T>G (p.Leu467Arg)	PRRT3, PRRT3-AS1 (L467R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219739	NM_207351.5(PRRT3):c.1380G>C (p.Trp460Cys)	PRRT3, PRRT3-AS1 (W460C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219738	NM_207351.5(PRRT3):c.1205G>C (p.Ser402Thr)	PRRT3, PRRT3-AS1 (S402T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219737	NM_207351.5(PRRT3):c.11G>C (p.Ser4Thr)	PRRT3, PRRT3-AS1 (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219736	NM_207351.5(PRRT3):c.1154T>A (p.Met385Lys)	PRRT3, PRRT3-AS1 (M385K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566750	NM_207351.5(PRRT3):c.760T>C (p.Ser254Pro)	PRRT3, PRRT3-AS1 (S254P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547269	NM_207351.5(PRRT3):c.1502G>A (p.Arg501Gln)	PRRT3, PRRT3-AS1 (R501Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545832	NM_207351.5(PRRT3):c.241G>A (p.Glu81Lys)	PRRT3, PRRT3-AS1 (E81K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538120	NM_207351.5(PRRT3):c.101T>C (p.Leu34Pro)	PRRT3, PRRT3-AS1 (L34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523567	NM_207351.5(PRRT3):c.448C>T (p.Pro150Ser)	PRRT3, PRRT3-AS1 (P150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511382	NM_207351.5(PRRT3):c.1058G>A (p.Arg353Gln)	PRRT3, PRRT3-AS1 (R353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488538	NM_207351.5(PRRT3):c.1219C>A (p.Pro407Thr)	PRRT3, PRRT3-AS1 (P407T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472257	NM_207351.5(PRRT3):c.1331C>A (p.Ala444Asp)	PRRT3, PRRT3-AS1 (A444D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470837	NM_207351.5(PRRT3):c.991G>T (p.Ala331Ser)	PRRT3, PRRT3-AS1 (A331S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464089	NM_207351.5(PRRT3):c.1364C>T (p.Ala455Val)	PRRT3, PRRT3-AS1 (A455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457576	NM_207351.5(PRRT3):c.937C>A (p.Pro313Thr)	PRRT3, PRRT3-AS1 (P313T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410962	NM_207351.5(PRRT3):c.226C>T (p.Arg76Cys)	PRRT3, PRRT3-AS1 (R76C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410293	NM_207351.5(PRRT3):c.1757T>C (p.Leu586Pro)	PRRT3, PRRT3-AS1 (L586P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2393281	NM_207351.5(PRRT3):c.943G>A (p.Ala315Thr)	PRRT3, PRRT3-AS1 (A315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389351	NM_207351.5(PRRT3):c.1106C>T (p.Pro369Leu)	PRRT3, PRRT3-AS1 (P369L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350898	NM_207351.5(PRRT3):c.1404C>G (p.Ser468Arg)	PRRT3, PRRT3-AS1 (S468R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344044	NM_207351.5(PRRT3):c.1301C>T (p.Pro434Leu)	PRRT3, PRRT3-AS1 (P434L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342109	NM_207351.5(PRRT3):c.1382G>T (p.Gly461Val)	PRRT3, PRRT3-AS1 (G461V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319983	NM_207351.5(PRRT3):c.1427A>G (p.Tyr476Cys)	PRRT3, PRRT3-AS1 (Y476C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285896	NM_207351.5(PRRT3):c.551G>A (p.Arg184Lys)	PRRT3, PRRT3-AS1 (R184K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267350	NM_207351.5(PRRT3):c.1249C>T (p.Arg417Trp)	PRRT3, PRRT3-AS1 (R417W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258580	NM_207351.5(PRRT3):c.1072G>A (p.Val358Met)	PRRT3, PRRT3-AS1 (V358M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234931	NM_207351.5(PRRT3):c.1190C>T (p.Pro397Leu)	PRRT3, PRRT3-AS1 (P397L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703486	NM_207351.5(PRRT3):c.1180G>A (p.Glu394Lys)	PRRT3, PRRT3-AS1 (E394K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	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 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
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 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
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 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	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

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Links from Gene

Items: 65