ClinVar for MedGen (Select 347546) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235947	GRCh38/hg38 8q23.1(chr8:105628485-105634938)	ZFPM2	Copy number loss	Diaphragmatic hernia 3	GLikely pathogenic
Select item 2441879	NM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro)	LOC126860469, ZFPM2 +1 more (A590P +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GUncertain significance
Select item 1706571	NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)	ZFPM2 (R117* +1 more)	Single nucleotide variant (nonsense +1 more)	Diaphragmatic hernia 3	GPathogenic
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 1558608	NM_012082.4(ZFPM2):c.40+12C>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign
Select item 987904	NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)	ZFPM2, ZFPM2-AS1 (Y335fs +2 more)	Duplication (frameshift variant)	Diaphragmatic hernia 3	GPathogenic
Select item 987903	NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)	ZFPM2, ZFPM2-AS1 (C123fs +2 more)	Duplication (frameshift variant)	Diaphragmatic hernia 3	GPathogenic
Select item 982981	NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn)	ZFPM2-AS1, ZFPM2 (S1059N +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GUncertain significance
Select item 633466	NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	ZFPM2, ZFPM2-AS1 (K390Q +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GUncertain significance
Select item 633465	NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	ZFPM2 (E44K)	Single nucleotide variant (5 prime UTR variant +2 more)	Diaphragmatic hernia 3 +1 more	GConflicting classifications of pathogenicity
Select item 6131	NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)	LOC126860469, ZFPM2 +1 more (T843A +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GPathogenic
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 6129	NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	ZFPM2 (R112* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 6128	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	ZFPM2 (E30G)	Single nucleotide variant (5 prime UTR variant +2 more)	ZFPM2-related disorder +3 more	GBenign/Likely benign