PNMA8B[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +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	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 3215988	NM_020709.3(PNMA8B):c.1873C>T (p.Arg625Cys)	PNMA8B (R625C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215987	NM_020709.3(PNMA8B):c.1865A>G (p.Lys622Arg)	PNMA8B (K622R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508633	NM_020709.3(PNMA8B):c.1811G>A (p.Arg604Lys)	PNMA8B (R604K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308142	NM_020709.3(PNMA8B):c.1806T>A (p.His602Gln)	PNMA8B (H602Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215986	NM_020709.3(PNMA8B):c.1757A>C (p.Asp586Ala)	PNMA8B (D586A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490158	NM_020709.3(PNMA8B):c.1730C>T (p.Ala577Val)	PNMA8B (A577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215985	NM_020709.3(PNMA8B):c.1705C>T (p.Arg569Trp)	PNMA8B (R569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215984	NM_020709.3(PNMA8B):c.1696G>A (p.Gly566Ser)	PNMA8B (G566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215983	NM_020709.3(PNMA8B):c.1597C>T (p.Pro533Ser)	PNMA8B (P533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215982	NM_020709.3(PNMA8B):c.1589C>T (p.Ser530Phe)	PNMA8B (S530F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215981	NM_020709.3(PNMA8B):c.1574C>T (p.Pro525Leu)	PNMA8B (P525L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215980	NM_020709.3(PNMA8B):c.1564G>T (p.Ala522Ser)	PNMA8B (A522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518868	NM_020709.3(PNMA8B):c.1555G>A (p.Glu519Lys)	PNMA8B (E519K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215979	NM_020709.3(PNMA8B):c.1499A>G (p.Asn500Ser)	PNMA8B (N500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215978	NM_020709.3(PNMA8B):c.1466C>T (p.Ala489Val)	PNMA8B (A489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215977	NM_020709.3(PNMA8B):c.1457A>C (p.Glu486Ala)	PNMA8B (E486A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308146	NM_020709.3(PNMA8B):c.1449A>C (p.Lys483Asn)	PNMA8B (K483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308147	NM_020709.3(PNMA8B):c.1306G>A (p.Gly436Arg)	PNMA8B (G436R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215975	NM_020709.3(PNMA8B):c.1106G>A (p.Arg369Gln)	PNMA8B (R369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215974	NM_020709.3(PNMA8B):c.1025C>G (p.Ser342Trp)	PNMA8B (S342W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215997	NM_020709.3(PNMA8B):c.958G>A (p.Gly320Arg)	PNMA8B (G320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215996	NM_020709.3(PNMA8B):c.953A>G (p.Glu318Gly)	PNMA8B (E318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471805	NM_020709.3(PNMA8B):c.902C>A (p.Thr301Asn)	PNMA8B (T301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470363	NM_020709.3(PNMA8B):c.896G>A (p.Arg299Lys)	PNMA8B (R299K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308150	NM_020709.3(PNMA8B):c.775G>A (p.Val259Ile)	PNMA8B (V259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308149	NM_020709.3(PNMA8B):c.621G>T (p.Glu207Asp)	PNMA8B (E207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471785	NM_020709.3(PNMA8B):c.620A>G (p.Glu207Gly)	PNMA8B (E207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521879	NM_020709.3(PNMA8B):c.568G>T (p.Ala190Ser)	PNMA8B (A190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496360	NM_020709.3(PNMA8B):c.537G>T (p.Lys179Asn)	PNMA8B (K179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215995	NM_020709.3(PNMA8B):c.521C>T (p.Thr174Ile)	PNMA8B (T174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215994	NM_020709.3(PNMA8B):c.491G>A (p.Arg164His)	PNMA8B (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215993	NM_020709.3(PNMA8B):c.451C>T (p.Leu151Phe)	PNMA8B (L151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215992	NM_020709.3(PNMA8B):c.389C>G (p.Pro130Arg)	PNMA8B (P130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308148	NM_020709.3(PNMA8B):c.383C>G (p.Pro128Arg)	PNMA8B (P128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215991	NM_020709.3(PNMA8B):c.358G>A (p.Glu120Lys)	PNMA8B (E120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215990	NM_020709.3(PNMA8B):c.286C>A (p.Arg96Ser)	PNMA8B (R96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308145	NM_020709.3(PNMA8B):c.221A>G (p.Asn74Ser)	PNMA8B (N74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215989	NM_020709.3(PNMA8B):c.206T>G (p.Phe69Cys)	PNMA8B (F69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308143	NM_020709.3(PNMA8B):c.193G>A (p.Ala65Thr)	PNMA8B (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308144	NM_020709.3(PNMA8B):c.133C>T (p.Pro45Ser)	PNMA8B (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215976	NM_020709.3(PNMA8B):c.121C>T (p.Pro41Ser)	PNMA8B (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215998	NM_020709.3(PNMA8B):c.97G>A (p.Ala33Thr)	PNMA8B (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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 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	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 56