9322[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 3053594	NM_006247.4(PPP5C):c.2T>C (p.Met1Thr)	LOC130064748, PPP5C (M1T)	Single nucleotide variant (missense variant +1 more)	PPP5C-related disorder	GLikely benign
Select item 3031833	NM_006247.4(PPP5C):c.46dup (p.Arg16fs)	PPP5C (R16fs)	Duplication (frameshift variant)	PPP5C-related disorder	GUncertain significance
Select item 2379005	NM_006247.4(PPP5C):c.41C>G (p.Pro14Arg)	PPP5C (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522658	NM_006247.4(PPP5C):c.58C>G (p.Pro20Ala)	PPP5C (P20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606960	NM_006247.4(PPP5C):c.59C>T (p.Pro20Leu)	PPP5C (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323564	NM_006247.4(PPP5C):c.68G>A (p.Gly23Glu)	PPP5C (G23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217867	NM_006247.4(PPP5C):c.129C>G (p.Asp43Glu)	PPP5C (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704329	NM_006247.4(PPP5C):c.139G>A (p.Ala47Thr)	PPP5C (A47T)	Single nucleotide variant (missense variant)	PPP5C-related disorder +1 more	GUncertain significance
Select item 2540147	NM_006247.4(PPP5C):c.160G>T (p.Ala54Ser)	PPP5C (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260135	NM_006247.4(PPP5C):c.184G>A (p.Ala62Thr)	PPP5C (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331627	NM_006247.4(PPP5C):c.224C>T (p.Thr75Ile)	PPP5C (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291345	NM_006247.4(PPP5C):c.362C>T (p.Thr121Met)	PPP5C (T121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235943	NM_006247.4(PPP5C):c.391G>T (p.Asp131Tyr)	PPP5C (D131Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406464	NM_006247.4(PPP5C):c.426C>G (p.Ile142Met)	PPP5C (I142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532813	NM_006247.4(PPP5C):c.448C>T (p.Arg150Trp)	PPP5C (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633501	NM_006247.4(PPP5C):c.458C>G (p.Ala153Gly)	PPP5C (A153G)	Single nucleotide variant (missense variant)	PPP5C-related disorder	GUncertain significance
Select item 2369407	NM_006247.4(PPP5C):c.463G>A (p.Asp155Asn)	PPP5C (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217870	NM_006247.4(PPP5C):c.476G>A (p.Arg159His)	PPP5C (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059137	NM_006247.4(PPP5C):c.492G>A (p.Ser164=)	PPP5C	Single nucleotide variant (synonymous variant)	PPP5C-related disorder	GLikely benign
Select item 3217871	NM_006247.4(PPP5C):c.686C>T (p.Thr229Ile)	PPP5C (T229I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217872	NM_006247.4(PPP5C):c.884A>G (p.Asp295Gly)	PPP5C (D273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037600	NM_006247.4(PPP5C):c.915G>A (p.Glu305=)	PPP5C	Single nucleotide variant (synonymous variant)	PPP5C-related disorder	GLikely benign
Select item 2335755	NM_006247.4(PPP5C):c.946G>A (p.Glu316Lys)	PPP5C (E294K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475827	NM_006247.4(PPP5C):c.1036G>A (p.Gly346Ser)	PPP5C (G324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305947	NM_006247.4(PPP5C):c.1228G>A (p.Val410Ile)	PPP5C (V410I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217866	NM_006247.4(PPP5C):c.1294G>A (p.Glu432Lys)	PPP5C (E410K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217868	NM_006247.4(PPP5C):c.1409G>T (p.Arg470Leu)	PPP5C (R470L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373609	NM_006247.4(PPP5C):c.1409G>A (p.Arg470Gln)	PPP5C (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217869	NM_006247.4(PPP5C):c.1421A>G (p.His474Arg)	PPP5C (H474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204100	NM_006247.4(PPP5C):c.1475C>T (p.Thr492Met)	PPP5C (T470M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980766	GRCh37/hg19 19q13.32(chr19:46645877-46868805)x1	HIF3A, IGFL1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 41