"Invitae"[submitter] AND "LOC126807392"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518366	NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1655430	NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 2778164	NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)	LOC126807392, MAP3K1 (S1071I)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1478607	NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys)	LOC126807392, MAP3K1 (M1081K)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 1383329	NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys)	LOC126807392, MAP3K1 (S1089C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2219751	NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)	LOC126807392, MAP3K1 (D1092G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2800691	NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)	LOC126807392, MAP3K1 (S1139F)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 783157	NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GBenign
Select item 707147	NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2094810	NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)	LOC126807392, MAP3K1 (P1203R)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GUncertain significance
Select item 471693	NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 6	GLikely benign
Select item 731519	NM_005921.2(MAP3K1):c.3639A>G (p.Gly1213=)	LOC126807392, MAP3K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275342	NM_005921.2(MAP3K1):c.3667-13G>A	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6 +1 more	GBenign
Select item 1167482	NM_005921.2(MAP3K1):c.3667-7T>C	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	MAP3K1-related condition +1 more	GBenign/Likely benign
Select item 1337701	NM_005921.2(MAP3K1):c.3667-4G>T	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 755854	NM_005921.2(MAP3K1):c.3667-4G>A	LOC126807392, MAP3K1	Single nucleotide variant (intron variant)	46,XY sex reversal 6	GLikely benign