"PreventionGenetics, part of Exact Sciences"[submitter] AND "ZFPM2-AS1 - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1571218	NM_012082.4(ZFPM2):c.582G>A (p.Glu194=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	ZFPM2-related disorder +1 more	GLikely benign
Select item 260179	NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)	ZFPM2, ZFPM2-AS1 (S210T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2629275	NM_012082.4(ZFPM2):c.662C>T (p.Ala221Val)	ZFPM2, ZFPM2-AS1 (A168V +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 2632458	NM_012082.4(ZFPM2):c.963T>G (p.Ser321Arg)	ZFPM2, ZFPM2-AS1 (S189R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 2705374	NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	ZFPM2-related disorder +1 more	GLikely benign
Select item 2630699	NM_012082.4(ZFPM2):c.1100A>G (p.His367Arg)	ZFPM2, ZFPM2-AS1 (H235R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 2770632	NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)	ZFPM2, ZFPM2-AS1 (D343N +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder +1 more	GUncertain significance
Select item 2405225	NM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr)	ZFPM2, ZFPM2-AS1 (H267Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 260170	NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)	ZFPM2, ZFPM2-AS1 (A403G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2629332	NM_012082.4(ZFPM2):c.1226A>G (p.Gln409Arg)	ZFPM2, ZFPM2-AS1 (Q277R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 260171	NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9 +2 more	GBenign
Select item 39518	NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	ZFPM2, ZFPM2-AS1 (M544I +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 260172	NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=)	ZFPM2-AS1, ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9 +2 more	GBenign
Select item 3061455	NM_012082.4(ZFPM2):c.1797T>C (p.Thr599=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	ZFPM2-related disorder	GLikely benign
Select item 260173	NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3045797	NM_012082.4(ZFPM2):c.2021G>A (p.Ser674Asn)	ZFPM2, ZFPM2-AS1 (S542N +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 6130	NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	ZFPM2, ZFPM2-AS1 (M703L +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder +2 more	GBenign/Likely benign
Select item 2633609	NM_012082.4(ZFPM2):c.2159G>A (p.Arg720Lys)	LOC126860469, ZFPM2 +1 more (R588K +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 260174	NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)	LOC126860469, ZFPM2 +1 more (E782D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 260175	NM_012082.4(ZFPM2):c.2385C>G (p.Val795=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 697278	NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	ZFPM2-related disorder +2 more	GBenign/Likely benign
Select item 544227	NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg)	LOC126860469, ZFPM2 +1 more (K834R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder +2 more	GBenign/Likely benign
Select item 2838011	NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)	LOC126860469, ZFPM2 +1 more (D759E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GUncertain significance
Select item 1574529	NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)	LOC126860469, ZFPM2 +1 more (K856T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +3 more	GLikely benign
Select item 260176	NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9 +2 more	GBenign
Select item 2629935	NM_012082.4(ZFPM2):c.3175C>T (p.Gln1059Ter)	LOC126860469, ZFPM2 +1 more (Q1006* +2 more)	Single nucleotide variant (nonsense)	ZFPM2-related disorder	GUncertain significance
Select item 260178	NM_012082.4(ZFPM2):c.3207C>T (p.His1069=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2631095	NM_012082.4(ZFPM2):c.3377T>A (p.Ile1126Asn)	ZFPM2, ZFPM2-AS1 (I1073N +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance

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Items: 28