ClinVar for Gene (Select 163154) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310465	NM_001134316.2(PRR22):c.154C>T (p.Pro52Ser)	PRR22 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310464	NM_001134316.2(PRR22):c.1114C>G (p.Pro372Ala)	PRR22 (P372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310463	NM_001134316.2(PRR22):c.1210G>C (p.Gly404Arg)	PRR22 (G404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310462	NM_001134316.2(PRR22):c.1028C>T (p.Pro343Leu)	PRR22 (P343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310460	NM_001134316.2(PRR22):c.722C>T (p.Pro241Leu)	PRR22 (P241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310459	NM_001134316.2(PRR22):c.454C>T (p.Pro152Ser)	PRR22 (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310458	NM_001134316.2(PRR22):c.151C>T (p.Pro51Ser)	PRR22 (P51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3219399	NM_001134316.2(PRR22):c.970G>A (p.Asp324Asn)	PRR22 (D324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219398	NM_001134316.2(PRR22):c.842C>T (p.Pro281Leu)	PRR22 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219397	NM_001134316.2(PRR22):c.589C>T (p.Leu197Phe)	PRR22 (L197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219395	NM_001134316.2(PRR22):c.328G>A (p.Ala110Thr)	PRR22 (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219394	NM_001134316.2(PRR22):c.134C>T (p.Ser45Phe)	PRR22 (S45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219393	NM_001134316.2(PRR22):c.1228C>G (p.Pro410Ala)	PRR22 (P410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219391	NM_001134316.2(PRR22):c.1135C>G (p.Pro379Ala)	PRR22 (P379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219390	NM_001134316.2(PRR22):c.1024G>T (p.Val342Leu)	PRR22 (V342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219389	NM_001134316.2(PRR22):c.1024G>A (p.Val342Met)	PRR22 (V342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2598404	NM_001134316.2(PRR22):c.478G>T (p.Val160Leu)	PRR22 (V160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592567	NM_001134316.2(PRR22):c.1097C>T (p.Pro366Leu)	PRR22 (P366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524806	NM_001134316.2(PRR22):c.1232C>T (p.Pro411Leu)	PRR22 (P411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521076	NM_001134316.2(PRR22):c.889C>T (p.Pro297Ser)	PRR22 (P297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517459	NM_001134316.2(PRR22):c.127A>G (p.Met43Val)	PRR22 (M43V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491228	NM_001134316.2(PRR22):c.487G>A (p.Ala163Thr)	PRR22 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488974	NM_001134316.2(PRR22):c.1160C>T (p.Ala387Val)	PRR22 (A387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488536	NM_001134316.2(PRR22):c.784G>T (p.Ala262Ser)	PRR22 (A262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468375	NM_001134316.2(PRR22):c.112G>A (p.Glu38Lys)	PRR22 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467863	NM_001134316.2(PRR22):c.371C>A (p.Ala124Asp)	PRR22 (A124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462882	NM_001134316.2(PRR22):c.466G>A (p.Ala156Thr)	PRR22 (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401293	NM_001134316.2(PRR22):c.1106C>T (p.Pro369Leu)	PRR22 (P369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352190	NM_001134316.2(PRR22):c.304G>A (p.Gly102Arg)	PRR22 (G102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351238	NM_001134316.2(PRR22):c.485A>G (p.Asp162Gly)	PRR22 (D162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340506	NM_001134316.2(PRR22):c.314C>T (p.Ala105Val)	PRR22 (A105V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322001	NM_001134316.2(PRR22):c.769G>A (p.Glu257Lys)	PRR22 (E257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318705	NM_001134316.2(PRR22):c.296C>T (p.Ala99Val)	PRR22 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315474	NM_001134316.2(PRR22):c.655G>A (p.Gly219Ser)	PRR22 (G219S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312745	NM_001134316.2(PRR22):c.1102C>T (p.His368Tyr)	PRR22 (H368Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312311	NM_001134316.2(PRR22):c.521C>T (p.Pro174Leu)	PRR22 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297811	NM_001134316.2(PRR22):c.1234G>C (p.Gly412Arg)	PRR22 (G412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277224	NM_001134316.2(PRR22):c.1003C>G (p.Leu335Val)	PRR22 (L335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258250	NM_001134316.2(PRR22):c.17C>T (p.Pro6Leu)	PRR22 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241564	NM_001134316.2(PRR22):c.1205C>A (p.Pro402Gln)	PRR22 (P402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221940	NM_001134316.2(PRR22):c.980G>A (p.Arg327His)	PRR22 (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220689	NM_001134316.2(PRR22):c.751A>G (p.Ser251Gly)	PRR22 (S251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204985	NM_001134316.2(PRR22):c.687C>A (p.Phe229Leu)	PRR22 (F229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53