"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126861 - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94213	NM_003482.4(KMT2D):c.4020+13C>G	KMT2D, LOC126861520	Single nucleotide variant (intron variant)	Kabuki syndrome +1 more	GBenign/Likely benign
Select item 1348234	NM_003482.4(KMT2D):c.4000T>G (p.Ser1334Ala)	KMT2D, LOC126861520 (S1334A)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1905855	NM_003482.4(KMT2D):c.3926C>T (p.Pro1309Leu)	KMT2D, LOC126861520 (P1309L)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GUncertain significance
Select item 1701764	NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)	KMT2D, LOC126861520 (R1299H)	Single nucleotide variant (missense variant)	KMT2D-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1356569	NM_003482.4(KMT2D):c.3895C>T (p.Arg1299Cys)	KMT2D, LOC126861520 (R1299C)	Single nucleotide variant (missense variant)	KMT2D-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1597288	NM_003482.4(KMT2D):c.3890G>A (p.Arg1297His)	KMT2D, LOC126861520 (R1297H)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3036155	NM_003482.4(KMT2D):c.3879C>T (p.Ser1293=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 3044758	NM_003482.4(KMT2D):c.3864G>A (p.Lys1288=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 2037374	NM_003482.4(KMT2D):c.3856G>C (p.Gly1286Arg)	KMT2D, LOC126861520 (G1286R)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 259057	NM_003482.4(KMT2D):c.3819C>T (p.Cys1273=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome +2 more	GBenign
Select item 1533301	NM_003482.4(KMT2D):c.3790C>T (p.Leu1264=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome +1 more	GBenign/Likely benign
Select item 3047160	NM_003482.4(KMT2D):c.3773G>A (p.Arg1258Gln)	KMT2D, LOC126861520 (R1258Q)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 309068	NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met)	KMT2D, LOC126861520 (T1246M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1606412	NM_003482.4(KMT2D):c.3717C>A (p.Ser1239=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome +1 more	GLikely benign
Select item 2635863	NM_003482.4(KMT2D):c.3710C>T (p.Ser1237Phe)	KMT2D, LOC126861520 (S1237F)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 3031289	NM_003482.4(KMT2D):c.3702G>T (p.Gly1234=)	LOC126861520, KMT2D	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 772724	NM_003482.4(KMT2D):c.3666C>T (p.Gly1222=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder +2 more	GBenign/Likely benign
Select item 3033460	NM_003482.4(KMT2D):c.3649A>C (p.Ser1217Arg)	KMT2D, LOC126861520 (S1217R)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 1422495	NM_003482.4(KMT2D):c.3647C>A (p.Ala1216Asp)	KMT2D, LOC126861520 (A1216D)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3055866	NM_003482.4(KMT2D):c.3579C>T (p.Ala1193=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 1212947	NM_003482.4(KMT2D):c.3573G>A (p.Pro1191=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome +2 more	GBenign/Likely benign
Select item 134673	NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)	KMT2D, LOC126861520 (P1191L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +4 more	GBenign/Likely benign
Select item 2148814	NM_003482.4(KMT2D):c.3519G>A (p.Lys1173=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome +1 more	GBenign/Likely benign
Select item 2197896	NM_003482.4(KMT2D):c.3468C>T (p.Asp1156=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome +1 more	GLikely benign
Select item 1512395	NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)	KMT2D, LOC126861520 (P1152L)	Single nucleotide variant (missense variant)	Kabuki syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25