PRR3[gene] - ClinVar

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Items: 24

	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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 3219461	NM_025263.4(PRR3):c.35C>T (p.Pro12Leu)	PRR3 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397019	NM_025263.4(PRR3):c.66G>C (p.Glu22Asp)	PRR3 (E22D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556100	NM_025263.4(PRR3):c.100C>A (p.Pro34Thr)	PRR3 (P34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347816	NM_025263.4(PRR3):c.113C>T (p.Pro38Leu)	PRR3 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609607	NM_025263.4(PRR3):c.194C>T (p.Ser65Leu)	PRR3 (S65L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468006	NM_025263.4(PRR3):c.200G>T (p.Gly67Val)	PRR3 (G46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360058	NM_025263.4(PRR3):c.224G>T (p.Ser75Ile)	PRR3 (S54I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227852	NM_025263.4(PRR3):c.245G>T (p.Gly82Val)	PRR3 (G61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462157	NM_025263.4(PRR3):c.253C>T (p.Pro85Ser)	PRR3 (P85S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361311	NM_025263.4(PRR3):c.260G>A (p.Arg87Gln)	PRR3 (R87Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387855	NM_025263.4(PRR3):c.316G>A (p.Ala106Thr)	PRR3 (A106T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310482	NM_025263.4(PRR3):c.373A>G (p.Lys125Glu)	PRR3 (K104E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544323	NM_025263.4(PRR3):c.416T>C (p.Ile139Thr)	PRR3 (I118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343360	NM_025263.4(PRR3):c.473G>A (p.Arg158His)	PRR3 (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236045	NM_025263.4(PRR3):c.473G>T (p.Arg158Leu)	PRR3 (R137L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219462	NM_025263.4(PRR3):c.492T>G (p.Phe164Leu)	PRR3 (F143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219463	NM_025263.4(PRR3):c.505C>G (p.His169Asp)	PRR3 (H148D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219464	NM_025263.4(PRR3):c.551A>G (p.Asn184Ser)	PRR3 (N163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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

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Items: 24