ClinVar for MedGen (Select 1824056) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024281	NM_003482.4(KMT2D):c.7985del (p.Pro2662fs)	KMT2D (P2662fs)	Deletion (frameshift variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +1 more	GPathogenic
Select item 2443724	NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)	KMT2D (A3541P)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	GLikely pathogenic
Select item 2443722	NM_003482.4(KMT2D):c.10658G>T (p.Gly3553Val)	KMT2D (G3553V)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	GPathogenic
Select item 2443721	NM_003482.4(KMT2D):c.10625T>C (p.Leu3542Pro)	KMT2D (L3542P)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	GPathogenic
Select item 2443720	NM_003482.4(KMT2D):c.10582C>G (p.Leu3528Val)	KMT2D (L3528V)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	GPathogenic
Select item 2443338	NM_003482.4(KMT2D):c.10706A>G (p.Glu3569Gly)	KMT2D (E3569G)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	GLikely pathogenic
Select item 2431859	NM_003482.4(KMT2D):c.14530G>T (p.Gly4844Cys)	KMT2D (G4844C)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	GUncertain significance
Select item 1436140	NM_003482.4(KMT2D):c.5934C>T (p.Gly1978=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome +2 more	GLikely benign
Select item 1398314	NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln)	KMT2D (R3582Q)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1302886	NM_003482.4(KMT2D):c.2694_2708del (p.Ala899_Pro903del)	KMT2D	Deletion (inframe_deletion)	Kabuki syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 992527	NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu)	KMT2D (G1808E)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 992526	NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val)	KMT2D (A2147V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 989257	NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr)	KMT2D (I3532T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 827983	NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His)	KMT2D (R3547H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance
Select item 626129	NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)	KMT2D (P470S)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 626128	NM_003482.4(KMT2D):c.6902C>T (p.Pro2301Leu)	KMT2D (P2301L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance
Select item 625971	NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln)	KMT2D (R2334Q)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625970	NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu)	KMT2D (R2443L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 625969	NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)	KMT2D (Q3950R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 625968	NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro)	KMT2D (H5114P)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 625967	NM_003482.4(KMT2D):c.5267G>A (p.Arg1756Gln)	KMT2D (R1756Q)	Single nucleotide variant (missense variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +2 more	GUncertain significance
Select item 620151	NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)	KMT2D (R5340*)	Single nucleotide variant (nonsense)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +4 more	GPathogenic
Select item 463021	NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=)	KMT2D	Single nucleotide variant (synonymous variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +3 more	GBenign/Likely benign
Select item 449909	NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro)	KMT2D (L3525P)	Single nucleotide variant (missense variant)	KMT2D-related disorder +1 more	GLikely pathogenic
Select item 435673	NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys)	KMT2D (Y3595C)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 309000	NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)	KMT2D (I5232V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 196683	NM_003482.4(KMT2D):c.6235-6C>G	KMT2D	Single nucleotide variant (intron variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +4 more	GConflicting classifications of pathogenicity
Select item 193866	NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys)	KMT2D, LOC126861520 (R1297C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158754	NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys)	KMT2D (Q836K)	Single nucleotide variant (missense variant)	Kabuki syndrome +4 more	GConflicting classifications of pathogenicity
Select item 134697	NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)	KMT2D (G2569S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 134664	NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)	KMT2D (P692T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 94209	NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)	KMT2D (P998T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +4 more	GConflicting classifications of pathogenicity

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Items: 32