PRRT1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2292262	NM_030651.4(PRRT1):c.727A>G (p.Ile243Val)	PRRT1 (I162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310603	NM_030651.4(PRRT1):c.694A>G (p.Ile232Val)	PRRT1 (I151V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595734	NM_030651.4(PRRT1):c.484G>A (p.Gly162Ser)	PRRT1 (G81S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310601	NM_030651.4(PRRT1):c.425A>C (p.Gln142Pro)	PRRT1 (Q142P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246822	NM_030651.4(PRRT1):c.407C>T (p.Ala136Val)	PRRT1 (A55V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219731	NM_030651.4(PRRT1):c.320T>C (p.Met107Thr)	PRRT1 (M107T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310602	NM_030651.4(PRRT1):c.188G>A (p.Gly63Asp)	PRRT1 (G63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526875	NM_030651.4(PRRT1):c.169C>T (p.Pro57Ser)	PRRT1 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219729	NM_030651.4(PRRT1):c.104A>C (p.Gln35Pro)	PRRT1 (Q35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265089	NM_030651.4(PRRT1):c.62A>G (p.Asn21Ser)	PRRT1 (N21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529808	NM_030651.4(PRRT1):c.38C>T (p.Pro13Leu)	PRRT1 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399533	NM_030651.4(PRRT1):c.13A>G (p.Lys5Glu)	PRRT1 (K5E)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3219730	NM_030651.4(PRRT1):c.10G>C (p.Glu4Gln)	PRRT1 (E4Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	AGER, AGPAT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, AGPAT1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 23