Related gene-specific medical variations for Gene (Select 27245) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382891	NM_001371928.1(AHDC1):c.1889dup (p.Arg631fs)	AHDC1 (R631fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 3382877	NM_001371928.1(AHDC1):c.1414C>T (p.Arg472Trp)	AHDC1 (R472W)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3362309	NM_001371928.1(AHDC1):c.1509C>A (p.Ser503Arg)	AHDC1 (S503R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 3360702	NM_001371928.1(AHDC1):c.4328A>G (p.His1443Arg)	AHDC1 (H1443R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360625	NM_001371928.1(AHDC1):c.4144C>T (p.Pro1382Ser)	AHDC1 (P1382S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360320	NM_001371928.1(AHDC1):c.2821G>T (p.Ala941Ser)	AHDC1 (A941S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359600	NM_001371928.1(AHDC1):c.3554C>T (p.Ala1185Val)	AHDC1 (A1185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359046	NM_001371928.1(AHDC1):c.898dup (p.Leu300fs)	AHDC1 (L300fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 3068006	NM_001371928.1(AHDC1):c.631G>A (p.Gly211Ser)	AHDC1 (G211S)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3065838	NM_001371928.1(AHDC1):c.2092A>G (p.Ile698Val)	AHDC1 (I698V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2690473	NM_001371928.1(AHDC1):c.640C>T (p.His214Tyr)	AHDC1 (H214Y)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely benign
Select item 2690472	NM_001371928.1(AHDC1):c.1172A>G (p.Lys391Arg)	AHDC1 (K391R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely benign
Select item 2438943	NM_001371928.1(AHDC1):c.1139C>T (p.Pro380Leu)	AHDC1 (P380L)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438942	NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)	AHDC1 (K1516E +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438941	NM_001371928.1(AHDC1):c.2951C>G (p.Thr984Ser)	AHDC1 (T984S)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438940	NM_001371928.1(AHDC1):c.4134G>T (p.Lys1378Asn)	AHDC1 (K1378N +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438938	NM_001371928.1(AHDC1):c.2672G>A (p.Arg891Gln)	AHDC1 (R891Q)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438936	NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)	AHDC1 (R192W)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438935	NM_001371928.1(AHDC1):c.3587C>T (p.Ser1196Leu)	AHDC1 (S1196L)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438934	NM_001371928.1(AHDC1):c.1034G>T (p.Gly345Val)	AHDC1 (G345V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2430046	NM_001371928.1(AHDC1):c.1322C>T (p.Pro441Leu)	AHDC1 (P441L)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1722315	NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)	AHDC1 (R841fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 1700058	NM_001371928.1(AHDC1):c.3756del (p.Ala1253fs)	AHDC1 (A1253fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1700057	NM_001371928.1(AHDC1):c.3911C>G (p.Pro1304Arg)	AHDC1 (P1304R)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1679794	NM_001371928.1(AHDC1):c.3518T>A (p.Phe1173Tyr)	AHDC1 (F1173Y)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 1342523	NM_001371928.1(AHDC1):c.3778T>C (p.Tyr1260His)	AHDC1 (Y1260H)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 1048789	NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs)	AHDC1 (P376fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996933	NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs)	AHDC1 (E1480fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996932	NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter)	AHDC1 (S1330*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996930	NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter)	AHDC1 (Q978*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996929	NM_001371928.1(AHDC1):c.2849del (p.Pro950fs)	AHDC1 (P950fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996928	NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter)	AHDC1 (Q882*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996927	NM_001371928.1(AHDC1):c.2520del (p.Arg841fs)	AHDC1 (R841fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996926	NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter)	AHDC1 (Q825*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996925	NM_001371928.1(AHDC1):c.2415del (p.Leu806fs)	AHDC1 (L806fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996924	NM_001371928.1(AHDC1):c.1446del (p.Val483fs)	AHDC1 (V483fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996923	NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter)	AHDC1 (Q262*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 996922	NM_001371928.1(AHDC1):c.643dup (p.Ser215fs)	AHDC1 (S215fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 986932	NM_001371928.1(AHDC1):c.4388del (p.Gly1463fs)	AHDC1 (G1463fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986821	NM_001371928.1(AHDC1):c.2168del (p.Pro723fs)	AHDC1 (P723fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 983326	NM_001371928.1(AHDC1):c.1405C>T (p.Arg469Trp)	AHDC1 (R469W)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975331	NM_001371928.1(AHDC1):c.3212C>T (p.Pro1071Leu)	AHDC1 (P1071L)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975330	NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs)	AHDC1 (R1475fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 975329	NM_001371928.1(AHDC1):c.2135T>G (p.Val712Gly)	AHDC1 (V712G)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975328	NM_001371928.1(AHDC1):c.3320A>C (p.Gln1107Pro)	AHDC1 (Q1107P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975327	NM_001371928.1(AHDC1):c.1262G>A (p.Gly421Glu)	AHDC1 (G421E)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 931766	NM_001371928.1(AHDC1):c.1285C>G (p.Pro429Ala)	AHDC1 (P429A)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 871136	NM_001371928.1(AHDC1):c.1201C>T (p.Arg401Trp)	AHDC1 (R401W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559645	NM_001371928.1(AHDC1):c.550del (p.Ala184fs)	AHDC1 (A184fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 559626	NM_001371928.1(AHDC1):c.3497C>G (p.Ser1166Ter)	AHDC1 (S1166*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 548580	NM_001371928.1(AHDC1):c.3692C>T (p.Pro1231Leu)	AHDC1 (P1231L)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 431372	NM_001371928.1(AHDC1):c.337A>T (p.Asn113Tyr)	AHDC1 (N113Y)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely benign
Select item 235563	NM_001029882.3(AHDC1):c.-971A>G	AHDC1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance

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Links from Gene

Items: 53