ClinVar for MedGen (Select 864138) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582301	NM_014875.3(KIF14):c.1270T>A (p.Tyr424Asn)	KIF14 (Y424N)	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GUncertain significance
Select item 1290903	NM_014875.3(KIF14):c.4020G>A (p.Glu1340=)	KIF14	Single nucleotide variant (synonymous variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign
Select item 1287972	NM_014875.3(KIF14):c.3096A>G (p.Glu1032=)	KIF14	Single nucleotide variant (synonymous variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign
Select item 1223272	NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala)	KIF14 (P1142A +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign
Select item 1033306	NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser)	KIF14 (A114S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 20, primary, autosomal recessive +3 more	GUncertain significance
Select item 1033305	NM_014875.3(KIF14):c.1147A>G (p.Met383Val)	KIF14 (M383V)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 20, primary, autosomal recessive +3 more	GUncertain significance
Select item 1030441	NM_014875.3(KIF14):c.4385G>A (p.Gly1462Glu)	KIF14 (G1462E +1 more)	Single nucleotide variant (missense variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GUncertain significance
Select item 992963	NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro)	KIF14 (L14P +1 more)	Single nucleotide variant (missense variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GLikely pathogenic
Select item 721215	NM_014875.3(KIF14):c.4842C>T (p.Asp1614=)	KIF14	Single nucleotide variant (synonymous variant)	Microcephaly 20, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 435619	NM_014875.3(KIF14):c.1087G>A (p.Val363Ile)	KIF14 (V363I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GLikely benign
Select item 426925	NM_014875.3(KIF14):c.4276A>C (p.Lys1426Gln)	KIF14 (K1426Q +1 more)	Single nucleotide variant (missense variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome +1 more	GUncertain significance
Select item 426924	NM_014875.3(KIF14):c.3114+3A>C	KIF14	Single nucleotide variant (intron variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome +1 more	GUncertain significance
Select item 183397	NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter)	KIF14 (R594* +1 more)	Single nucleotide variant (nonsense)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GPathogenic
Select item 183396	NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs)	KIF14 (E584fs +1 more)	Deletion (frameshift variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GPathogenic