PRDM4-AS1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3218441	NM_012406.4(PRDM4):c.2090C>T (p.Thr697Ile)	PRDM4, PRDM4-AS1 (T697I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2220457	NM_012406.4(PRDM4):c.2053C>T (p.Arg685Trp)	PRDM4, PRDM4-AS1 (R685W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2559379	NM_012406.4(PRDM4):c.1950G>C (p.Leu650Phe)	PRDM4, PRDM4-AS1 (L650F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3218440	NM_012406.4(PRDM4):c.1937A>G (p.Tyr646Cys)	PRDM4, PRDM4-AS1 (Y646C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610900	NM_012406.4(PRDM4):c.1919A>C (p.His640Pro)	PRDM4, PRDM4-AS1 (H640P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240172	NM_012406.4(PRDM4):c.1913A>G (p.Lys638Arg)	PRDM4, PRDM4-AS1 (K638R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589752	NM_012406.4(PRDM4):c.1837A>G (p.Met613Val)	PRDM4, PRDM4-AS1 (M613V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237290	NM_012406.4(PRDM4):c.1753A>G (p.Ser585Gly)	PRDM4, PRDM4-AS1 (S585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218438	NM_012406.4(PRDM4):c.1739A>G (p.His580Arg)	PRDM4, PRDM4-AS1 (H580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309790	NM_012406.4(PRDM4):c.1661A>G (p.Asn554Ser)	PRDM4, PRDM4-AS1 (N554S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218437	NM_012406.4(PRDM4):c.1658G>A (p.Cys553Tyr)	PRDM4, PRDM4-AS1 (C553Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480456	NM_012406.4(PRDM4):c.1589G>A (p.Arg530Gln)	PRDM4, PRDM4-AS1 (R530Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254990	NM_012406.4(PRDM4):c.1487G>A (p.Arg496Gln)	PRDM4, PRDM4-AS1 (R496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309789	NM_012406.4(PRDM4):c.1406A>G (p.Asn469Ser)	PRDM4, PRDM4-AS1 (N469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252007	NM_012406.4(PRDM4):c.1396A>T (p.Ile466Leu)	PRDM4, PRDM4-AS1 (I466L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218312	NM_012406.4(PRDM4):c.1307G>A (p.Arg436Gln)	PRDM4, PRDM4-AS1 (R436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218436	NM_012406.4(PRDM4):c.1234A>C (p.Lys412Gln)	PRDM4, PRDM4-AS1 (K412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218435	NM_012406.4(PRDM4):c.1214G>A (p.Arg405Lys)	PRDM4, PRDM4-AS1 (R405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591372	NM_012406.4(PRDM4):c.1206A>G (p.Ile402Met)	PRDM4, PRDM4-AS1 (I402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237549	NM_012406.4(PRDM4):c.1157C>G (p.Ser386Trp)	PRDM4, PRDM4-AS1 (S386W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615429	NM_012406.4(PRDM4):c.1145G>A (p.Arg382His)	PRDM4, PRDM4-AS1 (R382H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3389526	NM_012406.4(PRDM4):c.1074A>G (p.Gln358=)	PRDM4-AS1, PRDM4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2460323	NM_012406.4(PRDM4):c.1014G>C (p.Met338Ile)	PRDM4, PRDM4-AS1 (M338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218433	NM_012406.4(PRDM4):c.1006G>A (p.Val336Ile)	PRDM4, PRDM4-AS1 (V336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309791	NM_012406.4(PRDM4):c.998C>T (p.Thr333Ile)	PRDM4, PRDM4-AS1 (T333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218448	NM_012406.4(PRDM4):c.901G>A (p.Val301Met)	PRDM4, PRDM4-AS1 (V301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469786	NM_012406.4(PRDM4):c.886A>G (p.Thr296Ala)	PRDM4, PRDM4-AS1 (T296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320967	NM_012406.4(PRDM4):c.853C>G (p.Leu285Val)	PRDM4, PRDM4-AS1 (L285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361526	NM_012406.4(PRDM4):c.847A>G (p.Ser283Gly)	PRDM4, PRDM4-AS1 (S283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335874	NM_012406.4(PRDM4):c.840G>A (p.Met280Ile)	PRDM4, PRDM4-AS1 (M280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352467	NM_012406.4(PRDM4):c.833A>G (p.Asn278Ser)	PRDM4, PRDM4-AS1 (N278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623995	NM_012406.4(PRDM4):c.779A>G (p.Asn260Ser)	PRDM4, PRDM4-AS1 (N260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218447	NM_012406.4(PRDM4):c.742G>A (p.Ala248Thr)	PRDM4, PRDM4-AS1 (A248T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602091	NM_012406.4(PRDM4):c.727A>C (p.Asn243His)	PRDM4, PRDM4-AS1 (N243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218446	NM_012406.4(PRDM4):c.721A>G (p.Ser241Gly)	PRDM4, PRDM4-AS1 (S241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218445	NM_012406.4(PRDM4):c.718G>T (p.Val240Leu)	PRDM4, PRDM4-AS1 (V240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218444	NM_012406.4(PRDM4):c.620A>G (p.Asp207Gly)	PRDM4, PRDM4-AS1 (D207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260480	NM_012406.4(PRDM4):c.520G>T (p.Gly174Cys)	PRDM4, PRDM4-AS1 (G174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3389046	NM_012406.4(PRDM4):c.506C>T (p.Ser169Phe)	PRDM4, PRDM4-AS1 (S169F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2231919	NM_012406.4(PRDM4):c.502C>T (p.Arg168Cys)	PRDM4, PRDM4-AS1 (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309788	NM_012406.4(PRDM4):c.343T>C (p.Tyr115His)	PRDM4, PRDM4-AS1 (Y115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537191	NM_012406.4(PRDM4):c.267C>G (p.Asn89Lys)	PRDM4, PRDM4-AS1 (N89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522749	NM_012406.4(PRDM4):c.154G>C (p.Val52Leu)	PRDM4, PRDM4-AS1 (V52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218434	NM_012406.4(PRDM4):c.104G>T (p.Gly35Val)	PRDM4, PRDM4-AS1 (G35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 48