ClinVar for MedGen (Select 481845) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 406

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010008	NM_001378964.1(CDON):c.3164A>G (p.Asn1055Ser)	CDON (N1055S)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 3004440	NM_001378964.1(CDON):c.640+10T>C	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 3001314	NM_001378964.1(CDON):c.349+17C>T	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2988707	NM_001378964.1(CDON):c.774C>T (p.Asp258=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2959722	NM_001378964.1(CDON):c.3263A>G (p.His1088Arg)	CDON (H1088R)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2917486	NM_001378964.1(CDON):c.1043A>G (p.Asn348Ser)	CDON (N348S)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2915324	NM_001378964.1(CDON):c.968T>C (p.Val323Ala)	CDON (V323A)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2910240	NM_001378964.1(CDON):c.1553-16C>G	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2910062	NM_001378964.1(CDON):c.775G>A (p.Gly259Arg)	CDON (G259R)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2903863	NM_001378964.1(CDON):c.2420G>A (p.Ser807Asn)	CDON (S807N)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2903226	NM_001378964.1(CDON):c.1373G>A (p.Arg458Gln)	CDON (R458Q)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2902777	NM_001378964.1(CDON):c.1808A>G (p.Asp603Gly)	CDON (D603G)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2899797	NM_001378964.1(CDON):c.3764C>T (p.Thr1255Ile)	CDON (T1278I +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2897570	NM_001378964.1(CDON):c.1002C>T (p.Asp334=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2896008	NM_001378964.1(CDON):c.1544_1545del (p.Leu515fs)	CDON (L515fs)	Microsatellite (frameshift variant)	Holoprosencephaly 11	GUncertain significance
Select item 2886833	NM_001378964.1(CDON):c.2074G>A (p.Gly692Ser)	CDON (G692S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2875297	NM_001378964.1(CDON):c.2774-4C>T	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2873946	NM_001378964.1(CDON):c.2242G>A (p.Gly748Ser)	CDON (G748S)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2873384	NM_001378964.1(CDON):c.1234G>T (p.Val412Leu)	CDON (V412L)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2863596	NM_001378964.1(CDON):c.349+14T>C	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2855119	NM_001378964.1(CDON):c.3551C>T (p.Pro1184Leu)	CDON (P1184L)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2852822	NM_001378964.1(CDON):c.896T>C (p.Val299Ala)	CDON (V299A)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2850732	NM_001378964.1(CDON):c.2492A>G (p.His831Arg)	CDON (H831R)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2840636	NM_001378964.1(CDON):c.2562_2564del (p.Asn856del)	CDON (N856del)	Deletion (inframe_deletion)	Holoprosencephaly 11	GUncertain significance
Select item 2830163	NM_001378964.1(CDON):c.531G>A (p.Gln177=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2814560	NM_001378964.1(CDON):c.2711T>A (p.Met904Lys)	CDON (M904K)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2794559	NM_001378964.1(CDON):c.379C>G (p.His127Asp)	CDON (H127D)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2788568	NM_001378964.1(CDON):c.2258C>T (p.Ala753Val)	CDON (A753V)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2786902	NM_001378964.1(CDON):c.3762G>T (p.Pro1254=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2778368	NM_001378964.1(CDON):c.77-16G>A	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2776029	NM_001378964.1(CDON):c.497-20G>T	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2769841	NM_001378964.1(CDON):c.359A>G (p.Asp120Gly)	CDON (D120G)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2762570	NM_001378964.1(CDON):c.202T>A (p.Leu68Met)	CDON (L68M)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2747287	NM_001378964.1(CDON):c.3323G>A (p.Cys1108Tyr)	CDON (C1108Y)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2746582	NM_001378964.1(CDON):c.441C>G (p.Asn147Lys)	CDON (N147K)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2745586	NM_001378964.1(CDON):c.2672T>C (p.Ile891Thr)	CDON (I891T)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2742019	NM_001378964.1(CDON):c.2953G>A (p.Ala985Thr)	CDON (A985T)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2737627	NM_001378964.1(CDON):c.67G>T (p.Val23Leu)	CDON (V23L)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2737484	NM_001378964.1(CDON):c.3197_3198insATTGAATGGGAGCCTAAA (p.Leu1065_Asn1066insLysLeuAsnGlySerLeu)	CDON	Insertion (inframe_insertion)	Holoprosencephaly 11	GUncertain significance
Select item 2730050	NM_001378964.1(CDON):c.1619G>T (p.Arg540Ile)	CDON (R540I)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2729290	NM_001378964.1(CDON):c.2128G>C (p.Val710Leu)	CDON (V710L)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2727672	NM_001378964.1(CDON):c.844C>A (p.Pro282Thr)	CDON (P282T)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2726470	NM_001378964.1(CDON):c.1619G>C (p.Arg540Thr)	CDON (R540T)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2719660	NM_001378964.1(CDON):c.2091C>T (p.Pro697=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2717567	NM_001378964.1(CDON):c.3277-15C>T	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2716570	NM_001378964.1(CDON):c.711C>T (p.Ser237=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2716470	NM_001378964.1(CDON):c.3463G>A (p.Val1155Met)	CDON (V1155M)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2713586	NM_001378964.1(CDON):c.3243C>A (p.His1081Gln)	CDON (H1081Q)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2703464	NM_001378964.1(CDON):c.193G>A (p.Gly65Arg)	CDON (G65R)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2688759	NM_001378964.1(CDON):c.3011G>C (p.Gly1004Ala)	CDON (G1004A)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2688758	NM_001378964.1(CDON):c.1576G>T (p.Ala526Ser)	CDON (A526S)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2584962	NM_001378964.1(CDON):c.2474G>A (p.Arg825His)	CDON (R825H)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2439889	NM_001378964.1(CDON):c.644C>G (p.Pro215Arg)	CDON (P215R)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GConflicting classifications of pathogenicity
Select item 2439888	NM_001378964.1(CDON):c.101dup (p.Pro35fs)	CDON (P35fs)	Duplication (frameshift variant)	Holoprosencephaly 11	GUncertain significance
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2419934	NM_001378964.1(CDON):c.1365G>A (p.Ser455=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2417113	NM_001378964.1(CDON):c.3698C>G (p.Pro1233Arg)	CDON (P1233R +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2417083	NM_001378964.1(CDON):c.2467T>G (p.Ser823Ala)	CDON (S823A)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2386666	NM_001378964.1(CDON):c.2383G>A (p.Val795Ile)	CDON (V795I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2183038	NM_001378964.1(CDON):c.3335G>A (p.Arg1112Gln)	CDON (R1112Q)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2172930	NM_001378964.1(CDON):c.1227G>A (p.Thr409=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2160720	NM_001378964.1(CDON):c.891A>G (p.Gly297=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2159292	NM_001378964.1(CDON):c.2026+6T>G	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GUncertain significance
Select item 2159066	NM_001378964.1(CDON):c.2092G>A (p.Val698Ile)	CDON (V698I)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2158422	NM_001378964.1(CDON):c.2036C>A (p.Ala679Glu)	CDON (A679E)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GLikely benign
Select item 2154215	NM_001378964.1(CDON):c.979G>A (p.Ala327Thr)	CDON (A327T)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2153581	NM_001378964.1(CDON):c.3258T>A (p.His1086Gln)	CDON (H1086Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2152215	NM_001378964.1(CDON):c.1989A>T (p.Glu663Asp)	CDON (E663D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2147303	NM_001378964.1(CDON):c.101A>C (p.Glu34Ala)	CDON (E34A)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GConflicting classifications of pathogenicity
Select item 2144121	NM_001378964.1(CDON):c.3560G>A (p.Arg1187His)	CDON (R1187H)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +2 more	GConflicting classifications of pathogenicity
Select item 2134743	NM_001378964.1(CDON):c.2995+16A>G	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 2108726	NM_001378964.1(CDON):c.65C>G (p.Ser22Cys)	CDON (S22C)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2108114	NM_001378964.1(CDON):c.3761C>T (p.Pro1254Leu)	CDON (P1277L +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2093628	NM_001378964.1(CDON):c.3357-2A>G	CDON	Single nucleotide variant (splice acceptor variant)	Holoprosencephaly 11	GUncertain significance
Select item 2074337	NM_001378964.1(CDON):c.1123G>T (p.Val375Phe)	CDON (V375F)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2073657	NM_001378964.1(CDON):c.2631C>T (p.Tyr877=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2073599	NM_001378964.1(CDON):c.2091C>G (p.Pro697=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2072075	NM_001378964.1(CDON):c.173G>A (p.Arg58His)	CDON (R58H)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +2 more	GConflicting classifications of pathogenicity
Select item 2070582	NM_001378964.1(CDON):c.2868C>A (p.Thr956=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11 +1 more	GBenign/Likely benign
Select item 2067476	NM_001378964.1(CDON):c.1943C>T (p.Ser648Phe)	CDON (S648F)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2058601	NM_001378964.1(CDON):c.25T>G (p.Cys9Gly)	CDON (C9G)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2048107	NM_001378964.1(CDON):c.3614C>T (p.Pro1205Leu)	CDON (P1205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2048013	NM_001378964.1(CDON):c.2278C>T (p.Arg760Trp)	CDON (R760W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2045883	NM_001378964.1(CDON):c.3689T>A (p.Ile1230Asn)	CDON (I1253N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2044316	NM_001378964.1(CDON):c.1687G>T (p.Val563Leu)	CDON (V563L)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2043084	NM_001378964.1(CDON):c.1485G>C (p.Ala495=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 2042136	NM_001378964.1(CDON):c.746C>T (p.Pro249Leu)	CDON (P249L)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GUncertain significance
Select item 2037164	NM_001378964.1(CDON):c.3244G>A (p.Val1082Met)	CDON (V1082M)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GUncertain significance
Select item 2035139	NM_001378964.1(CDON):c.3349A>G (p.Asn1117Asp)	CDON (N1117D)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2012197	NM_001378964.1(CDON):c.3367A>G (p.Lys1123Glu)	CDON (K1123E)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GUncertain significance
Select item 2007598	NM_001378964.1(CDON):c.1320C>G (p.Asp440Glu)	CDON (D440E)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 2007166	NM_001378964.1(CDON):c.953T>C (p.Leu318Pro)	CDON (L318P)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GUncertain significance
Select item 1997777	NM_001378964.1(CDON):c.641-19A>G	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 1992474	NM_001378964.1(CDON):c.77-4G>C	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 1975195	NM_001378964.1(CDON):c.2348G>A (p.Arg783His)	CDON (R783H)	Single nucleotide variant (missense variant)	CDON-related disorder +1 more	GUncertain significance
Select item 1973463	NM_001378964.1(CDON):c.2286G>A (p.Arg762=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GBenign
Select item 1973379	NM_001378964.1(CDON):c.2001C>T (p.Ala667=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign
Select item 1965537	NM_001378964.1(CDON):c.1553-9T>C	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 1955328	NM_001378964.1(CDON):c.2159-9C>T	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11	GLikely benign
Select item 1945328	NM_001378964.1(CDON):c.1389A>C (p.Ser463=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11	GLikely benign

<< First< Prev

Page of 5