ClinVar for MedGen (Select 481529) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1503699	NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu)	KIF7, LOC126862216 (R1144L)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 1501465	NM_198525.3(KIF7):c.2642C>T (p.Thr881Met)	KIF7 (T881M)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GUncertain significance
Select item 1467260	NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr)	KIF7 (P581T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1424611	NM_198525.3(KIF7):c.976G>A (p.Val326Ile)	KIF7 (V326I)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +2 more	GUncertain significance
Select item 1334544	NM_198525.3(KIF7):c.1561-1G>A	KIF7	Single nucleotide variant (splice acceptor variant)	Acrocallosal syndrome +1 more	GLikely pathogenic
Select item 1211801	NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly)	KIF7 (R641G)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +3 more	GUncertain significance
Select item 1164639	NM_198525.3(KIF7):c.710G>T (p.Arg237Leu)	KIF7 (R237L)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +3 more	GBenign/Likely benign
Select item 1027931	NM_198525.3(KIF7):c.2896-18T>A	KIF7	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +1 more	GUncertain significance
Select item 1024840	NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)	KIF7 (R17Q)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GConflicting classifications of pathogenicity
Select item 988539	NM_198525.3(KIF7):c.1019dup (p.Asn341fs)	KIF7 (N341fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 930850	NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln)	KIF7 (R993Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 930849	NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met)	KIF7, LOC126862216 (T1109M)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2	GUncertain significance
Select item 673962	NM_198525.3(KIF7):c.3319-30A>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +3 more	GBenign
Select item 652558	NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	KIF7 (R1262W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 531998	NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp)	KIF7 (R939W)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GUncertain significance
Select item 522734	NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)	KIF7 (R809W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 500202	NM_198525.3(KIF7):c.2191+7C>T	KIF7	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 452288	NM_198525.3(KIF7):c.2354A>T (p.Glu785Val)	KIF7 (E785V)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +3 more	GUncertain significance
Select item 435645	NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)	KIF7 (S963T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GUncertain significance
Select item 384330	NM_198525.3(KIF7):c.2482G>A (p.Val828Met)	KIF7 (V828M)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +3 more	GUncertain significance
Select item 317382	NM_198525.3(KIF7):c.208G>A (p.Val70Met)	KIF7 (V70M)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +1 more	GUncertain significance
Select item 288336	NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly)	KIF7 (R973G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 286561	NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)	KIF7 (R702Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 283923	NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	KIF7 (G393C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GConflicting classifications of pathogenicity
Select item 283078	NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)	KIF7 (T807M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 263145	NM_198525.3(KIF7):c.3112-11_3112-10insCT	KIF7	Insertion (intron variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 263139	NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)	KIF7 (E629K)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GBenign/Likely benign
Select item 263138	NM_198525.3(KIF7):c.1788+13T>C	KIF7	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 197899	NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)	KIF7 (A477T)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 more	GBenign/Likely benign
Select item 129416	NM_198525.3(KIF7):c.3517+6C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GBenign
Select item 129415	NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)	KIF7, LOC126862216 (H1115Q)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +4 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 129408	NM_198525.3(KIF7):c.195G>C (p.Ala65=)	KIF7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 129406	NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)	KIF7 (D52N)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +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 provided +4 more	GBenign
Select item 96651	NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)	KIF7 (S958I)	Single nucleotide variant (missense variant)	Hydrolethalus syndrome 2 +4 more	GBenign
Select item 96649	NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)	KIF7 (T368A)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GBenign
Select item 30895	NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)	KIF7 (A966fs)	Deletion (frameshift variant)	Acrocallosal syndrome +2 more	GPathogenic

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Items: 40