PGBD1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	LOC129996111, LOC129996112 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3211737	NM_032507.4(PGBD1):c.5A>G (p.Tyr2Cys)	PGBD1 (Y2C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600706	NM_032507.4(PGBD1):c.103G>A (p.Gly35Ser)	PGBD1 (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598655	NM_032507.4(PGBD1):c.331A>T (p.Ser111Cys)	PGBD1 (S111C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211736	NM_032507.4(PGBD1):c.332G>T (p.Ser111Ile)	PGBD1 (S111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479831	NM_032507.4(PGBD1):c.506A>G (p.Lys169Arg)	PGBD1 (K169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309492	NM_032507.4(PGBD1):c.577C>T (p.His193Tyr)	PGBD1 (H193Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495668	NM_032507.4(PGBD1):c.587A>G (p.Glu196Gly)	PGBD1 (E196G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552906	NM_032507.4(PGBD1):c.644C>G (p.Thr215Arg)	PGBD1 (T215R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315452	NM_032507.4(PGBD1):c.679G>A (p.Val227Ile)	PGBD1 (V227I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264631	NM_032507.4(PGBD1):c.727T>C (p.Cys243Arg)	PGBD1 (C243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604031	NM_032507.4(PGBD1):c.785T>A (p.Val262Glu)	PGBD1 (V262E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402775	NM_032507.4(PGBD1):c.799T>G (p.Leu267Val)	PGBD1 (L267V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353764	NM_032507.4(PGBD1):c.881C>T (p.Pro294Leu)	PGBD1 (P294L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2557644	NM_032507.4(PGBD1):c.889C>T (p.Pro297Ser)	PGBD1 (P297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211738	NM_032507.4(PGBD1):c.899C>T (p.Thr300Ile)	PGBD1 (T300I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518461	NM_032507.4(PGBD1):c.902C>T (p.Pro301Leu)	PGBD1 (P301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211739	NM_032507.4(PGBD1):c.947A>G (p.Asp316Gly)	PGBD1 (D316G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773194	NM_032507.4(PGBD1):c.1036G>A (p.Asp346Asn)	PGBD1 (D346N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2568458	NM_032507.4(PGBD1):c.1052G>T (p.Ser351Ile)	PGBD1 (S351I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313166	NM_032507.4(PGBD1):c.1126G>A (p.Ala376Thr)	PGBD1 (A376T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481093	NM_032507.4(PGBD1):c.1213C>G (p.Leu405Val)	PGBD1 (L405V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528386	NM_032507.4(PGBD1):c.1243G>A (p.Glu415Lys)	PGBD1 (E415K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345220	NM_032507.4(PGBD1):c.1294T>C (p.Phe432Leu)	PGBD1 (F432L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211734	NM_032507.4(PGBD1):c.1387G>A (p.Val463Ile)	PGBD1 (V463I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495519	NM_032507.4(PGBD1):c.1570C>A (p.Pro524Thr)	PGBD1 (P524T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264885	NM_032507.4(PGBD1):c.1700G>T (p.Gly567Val)	PGBD1 (G567V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343642	NM_032507.4(PGBD1):c.1785T>G (p.Asp595Glu)	PGBD1 (D595E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214190	NM_032507.4(PGBD1):c.1815T>G (p.Asn605Lys)	PGBD1 (N605K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252827	NM_032507.4(PGBD1):c.1831G>A (p.Ala611Thr)	PGBD1 (A611T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276105	NM_032507.4(PGBD1):c.1845A>T (p.Leu615Phe)	PGBD1 (L615F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214727	NM_032507.4(PGBD1):c.1926G>T (p.Lys642Asn)	PGBD1 (K642N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343041	NM_032507.4(PGBD1):c.1991A>G (p.Glu664Gly)	PGBD1 (E664G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394090	NM_032507.4(PGBD1):c.2030G>A (p.Arg677Gln)	PGBD1 (R677Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211735	NM_032507.4(PGBD1):c.2146G>T (p.Asp716Tyr)	PGBD1 (D716Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214192	NM_032507.4(PGBD1):c.2228A>T (p.Asp743Val)	PGBD1 (D743V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380800	NM_032507.4(PGBD1):c.2234T>A (p.Ile745Asn)	PGBD1 (I745N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778887	NM_032507.4(PGBD1):c.2238T>C (p.Ile746=)	PGBD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2239607	NM_032507.4(PGBD1):c.2390C>T (p.Ala797Val)	PGBD1 (A797V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 44