"Clinical Genetics, Academic Medical Center"[submitter] AND "KIF7"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129417	NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129416	NM_198525.3(KIF7):c.3517+6C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 286941	NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)	KIF7, LOC126862216	Single nucleotide variant (synonymous variant)	KIF7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 263145	NM_198525.3(KIF7):c.3112-11_3112-10insCT	KIF7	Insertion (intron variant)	not provided +4 more	GBenign
Select item 96655	NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 96653	NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)	KIF7 (G1005R)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 96652	NM_198525.3(KIF7):c.2896-14G>A	KIF7	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 96651	NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)	KIF7 (S958I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 449246	NM_198525.3(KIF7):c.2719-28CCCT[6]	KIF7	Microsatellite (intron variant)	Acrocallosal syndrome +1 more	GLikely benign
Select item 96650	NM_198525.3(KIF7):c.2719-28CCCT[8]	KIF7	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 129413	NM_198525.3(KIF7):c.2658A>C (p.Ala886=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 263142	NM_198525.3(KIF7):c.2592+11C>A	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +1 more	GBenign
Select item 263141	NM_198525.3(KIF7):c.2192-13C>T	KIF7	Single nucleotide variant (intron variant)	Acrocallosal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 129409	NM_198525.3(KIF7):c.2043T>A (p.Val681=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 263139	NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)	KIF7 (E629K)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign/Likely benign
Select item 263138	NM_198525.3(KIF7):c.1788+13T>C	KIF7	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 96649	NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)	KIF7 (T368A)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 129408	NM_198525.3(KIF7):c.195G>C (p.Ala65=)	KIF7	Single nucleotide variant (synonymous variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 129406	NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)	KIF7 (D52N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 138059	NM_198525.3(KIF7):c.-5T>G	KIF7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign

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Items: 20