KDM8[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113920	NM_024773.3(KDM8):c.-32+481G>T	KDM8 (G9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523897	NM_024773.3(KDM8):c.-32+506G>C	KDM8 (G17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333580	NM_024773.3(KDM8):c.-32+523C>G	KDM8 (L23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270079	NM_024773.3(KDM8):c.-28C>A	KDM8 (H29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353723	NM_024773.3(KDM8):c.-27G>A	KDM8 (G30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300906	NM_024773.3(KDM8):c.-20A>C	KDM8 (E32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113918	NM_024773.3(KDM8):c.-9G>A	KDM8 (G36S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2397085	NM_024773.3(KDM8):c.5C>A (p.Ala2Asp)	KDM8 (A2D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358602	NM_024773.3(KDM8):c.80C>T (p.Pro27Leu)	KDM8 (P27L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273721	NM_024773.3(KDM8):c.83A>G (p.His28Arg)	KDM8 (H28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623154	NM_024773.3(KDM8):c.98T>A (p.Leu33Gln)	KDM8 (L33Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113921	NM_024773.3(KDM8):c.247A>G (p.Thr83Ala)	KDM8 (T83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515449	NM_024773.3(KDM8):c.278G>A (p.Arg93Gln)	KDM8 (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 710277	NM_024773.3(KDM8):c.289A>G (p.Ile97Val)	KDM8 (I135V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 986392	NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr)	KDM8 (C123Y +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome	GUncertain significance
Select item 2519342	NM_024773.3(KDM8):c.461C>T (p.Pro154Leu)	KDM8 (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274842	NM_024773.3(KDM8):c.466C>T (p.Arg156Cys)	KDM8 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363443	NM_024773.3(KDM8):c.680A>G (p.Gln227Arg)	KDM8 (Q265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478333	NM_024773.3(KDM8):c.698G>A (p.Arg233Gln)	KDM8 (R233Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220143	NM_024773.3(KDM8):c.811G>A (p.Gly271Arg)	KDM8 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672625	NM_024773.3(KDM8):c.1004G>T (p.Arg335Met)	KDM8 (R335M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409290	NM_024773.3(KDM8):c.1028C>T (p.Pro343Leu)	KDM8 (P381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475116	NM_024773.3(KDM8):c.1063C>T (p.His355Tyr)	KDM8 (H393Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113919	NM_024773.3(KDM8):c.1079C>T (p.Thr360Met)	KDM8 (T360M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710822	NM_024773.3(KDM8):c.1080G>A (p.Thr360=)	KDM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986393	NM_024773.3(KDM8):c.1086+14_1086+21del	KDM8	Deletion (intron variant)	Coffin-Siris syndrome	GUncertain significance
Select item 2589655	NM_024773.3(KDM8):c.1120C>T (p.Pro374Ser)	KDM8 (P374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251194	NM_024773.3(KDM8):c.1192T>C (p.Tyr398His)	KDM8 (Y398H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 28