ClinVar for MedGen (Select 863962) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689281	NM_005886.3(KATNB1):c.62G>A (p.Ser21Asn)	KATNB1 (S21N)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2432980	NM_005886.3(KATNB1):c.904C>A (p.Leu302Met)	KATNB1 (L302M)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2432979	NM_005886.3(KATNB1):c.1208T>A (p.Phe403Tyr)	KATNB1 (F403Y)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2432978	NM_005886.3(KATNB1):c.100C>T (p.Arg34Trp)	KATNB1 (R34W)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2163116	NM_005886.3(KATNB1):c.1357_1358delinsTT (p.Ala453Phe)	KATNB1 (A453F)	Indel (missense variant)	Lissencephaly 6 with microcephaly +1 more	GUncertain significance
Select item 2070092	NM_005886.3(KATNB1):c.1558G>A (p.Asp520Asn)	KATNB1 (D520N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1328151	NM_005886.3(KATNB1):c.131G>A (p.Arg44His)	KATNB1 (R44H)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 1324607	NM_005886.3(KATNB1):c.1416+1G>A	KATNB1	Single nucleotide variant (splice donor variant)	KATNB1-related condition +1 more	GLikely pathogenic
Select item 1236671	NM_005886.3(KATNB1):c.704+4C>T	KATNB1	Single nucleotide variant (intron variant)	Lissencephaly 6 with microcephaly +1 more	GBenign
Select item 1220936	NM_005886.3(KATNB1):c.726C>T (p.Asp242=)	KATNB1	Single nucleotide variant (synonymous variant)	Lissencephaly 6 with microcephaly +1 more	GBenign
Select item 1033039	NM_005886.3(KATNB1):c.1047-3C>T	KATNB1	Single nucleotide variant (intron variant)	Lissencephaly 6 with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 180641	NM_005886.3(KATNB1):c.432+1G>A	KATNB1	Single nucleotide variant (splice donor variant)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 180640	NM_005886.3(KATNB1):c.97G>T (p.Gly33Trp)	KATNB1 (G33W)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 180639	NM_005886.3(KATNB1):c.1A>G (p.Met1Val)	KATNB1 (M1V)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 180638	NM_005886.3(KATNB1):c.447del (p.Val150fs)	KATNB1 (V150fs)	Deletion (frameshift variant)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 180637	NM_005886.3(KATNB1):c.1619T>G (p.Leu540Arg)	KATNB1 (L540R)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 180636	NM_005886.3(KATNB1):c.1604C>T (p.Ser535Leu)	KATNB1 (S535L)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GPathogenic