ClinVar for MedGen (Select 355853) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 934

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075692	NM_015443.4(KANSL1):c.1215_1218delinsGGACTG (p.Ser405fs)	KANSL1 (S405fs)	Indel (frameshift variant +1 more)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 3065841	NM_015443.4(KANSL1):c.1213A>G (p.Ser405Gly)	KANSL1 (S405G)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 3022991	NM_015443.4(KANSL1):c.2204-8C>G	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 3020608	NM_015443.4(KANSL1):c.1848+19T>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 3017796	NM_015443.4(KANSL1):c.2740G>A (p.Asp914Asn)	KANSL1 (D428N +9 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 3017200	NM_015443.4(KANSL1):c.2591A>G (p.Asn864Ser)	KANSL1 (N830S +9 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 3016515	NM_015443.4(KANSL1):c.2203+7_2203+8del	KANSL1	Microsatellite (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 3007551	NM_015443.4(KANSL1):c.1799A>G (p.Lys600Arg)	KANSL1 (K178R +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 3004211	NM_015443.4(KANSL1):c.1622C>A (p.Ala541Glu)	KANSL1 (A507E +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 3001905	NM_015443.4(KANSL1):c.2364G>A (p.Leu788=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2992980	NM_015443.4(KANSL1):c.1461C>T (p.Pro487=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2987754	NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu)	KANSL1 (P516L +9 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2981052	NM_015443.4(KANSL1):c.2225G>C (p.Arg742Pro)	KANSL1 (R708P +2 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2980693	NM_015443.4(KANSL1):c.2323C>T (p.Pro775Ser)	KANSL1 (P353S +2 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2980669	NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln)	KANSL1 (R573Q +11 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2977089	NM_015443.4(KANSL1):c.2232C>T (p.Asp744=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2974158	NM_015443.4(KANSL1):c.3123C>T (p.Pro1041=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2968979	NM_015443.4(KANSL1):c.3135T>C (p.Ser1045=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2961284	NM_015443.4(KANSL1):c.1615T>C (p.Cys539Arg)	KANSL1 (C117R +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2960609	NM_015443.4(KANSL1):c.1848+6T>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2960523	NM_015443.4(KANSL1):c.1525G>A (p.Asp509Asn)	KANSL1 (D87N +1 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2956841	NM_015443.4(KANSL1):c.1621G>A (p.Ala541Thr)	KANSL1 (A541T +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2919605	NM_015443.4(KANSL1):c.3078G>A (p.Gly1026=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2919558	NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp)	KANSL1 (R1047W +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2913995	NM_015443.4(KANSL1):c.2537C>T (p.Thr846Ile)	KANSL1 (T361I +4 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 2910871	NM_015443.4(KANSL1):c.3004C>T (p.Leu1002Phe)	KANSL1 (L580F +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2901601	NM_015443.4(KANSL1):c.2797C>T (p.Leu933=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2896683	NM_015443.4(KANSL1):c.2890C>T (p.Pro964Ser)	KANSL1 (P478S +9 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2896275	NM_015443.4(KANSL1):c.1871G>A (p.Arg624His)	KANSL1 (R590H +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2896148	NM_015443.4(KANSL1):c.1849-11T>A	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2889255	NM_015443.4(KANSL1):c.3003C>T (p.Pro1001=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2880762	NM_015443.4(KANSL1):c.1818A>G (p.Arg606=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2879042	NM_015443.4(KANSL1):c.2020+18C>A	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2876788	NM_015443.4(KANSL1):c.1629A>T (p.Arg543Ser)	KANSL1 (R121S +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2875992	NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys)	KANSL1 (E489K +1 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2872192	NM_015443.4(KANSL1):c.1849-11T>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2868082	NM_015443.4(KANSL1):c.2542-3C>T	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2866805	NM_015443.4(KANSL1):c.2838-3C>T	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2866324	NM_015443.4(KANSL1):c.2393-4G>A	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2866128	NM_015443.4(KANSL1):c.1455A>G (p.Val485=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2863551	NM_015443.4(KANSL1):c.1939G>A (p.Glu647Lys)	KANSL1 (E613K +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2863434	NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter)	KANSL1 (K668* +2 more)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome	GPathogenic
Select item 2861952	NM_015443.4(KANSL1):c.2523G>C (p.Gln841His)	KANSL1 (Q807H +4 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2861711	NM_015443.4(KANSL1):c.2203+12G>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2858377	NM_015443.4(KANSL1):c.1756G>A (p.Gly586Ser)	KANSL1 (G164S +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2858000	NM_015443.4(KANSL1):c.1700C>G (p.Ala567Gly)	KANSL1 (A145G +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 2853360	NM_015443.4(KANSL1):c.1454T>A (p.Val485Glu)	KANSL1 (V63E +1 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GBenign
Select item 2849123	NM_015443.4(KANSL1):c.2919T>C (p.Asp973=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2847581	NM_015443.4(KANSL1):c.3258C>A (p.Val1086=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2846430	NM_015443.4(KANSL1):c.1933C>A (p.Pro645Thr)	KANSL1 (P223T +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2844959	NM_015443.4(KANSL1):c.2850A>G (p.Ser950=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2833044	NM_015443.4(KANSL1):c.2963C>A (p.Ser988Tyr)	KANSL1 (S502Y +9 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2831125	NM_015443.4(KANSL1):c.1530A>G (p.Lys510=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2830607	NM_015443.4(KANSL1):c.2752GCC[3] (p.Ala919_Leu920insAla)	KANSL1	Indel (inframe_insertion)	Koolen-de Vries syndrome	GUncertain significance
Select item 2825565	NM_015443.4(KANSL1):c.2021-20G>A	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2825082	NM_015443.4(KANSL1):c.2122A>G (p.Arg708Gly)	KANSL1 (R286G +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2824783	NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)	KANSL1 (T1039fs +11 more)	Duplication (frameshift variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2821971	NM_015443.4(KANSL1):c.2664del (p.Ser889fs)	KANSL1 (S467fs +9 more)	Deletion (frameshift variant)	Koolen-de Vries syndrome	GPathogenic
Select item 2820998	NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)	KANSL1 (A1036P +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2819437	NM_015443.4(KANSL1):c.2725-15G>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2815266	NM_015443.4(KANSL1):c.1579A>G (p.Ile527Val)	KANSL1 (I105V +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2811609	NM_015443.4(KANSL1):c.2280G>A (p.Val760=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2805460	NM_015443.4(KANSL1):c.1715A>G (p.His572Arg)	KANSL1 (H572R +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2804883	NM_015443.4(KANSL1):c.2366G>A (p.Arg789Gln)	KANSL1 (R789Q +2 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2798791	NM_015443.4(KANSL1):c.2342del (p.Pro781fs)	KANSL1 (P747fs +2 more)	Deletion (frameshift variant +1 more)	Koolen-de Vries syndrome	GPathogenic
Select item 2797598	NM_015443.4(KANSL1):c.2889C>T (p.Asn963=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2794664	NM_015443.4(KANSL1):c.2391A>C (p.Glu797Asp)	KANSL1 (E763D +2 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2791402	NM_015443.4(KANSL1):c.1753G>C (p.Asp585His)	KANSL1 (D163H +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2790746	NM_015443.4(KANSL1):c.1957C>G (p.Pro653Ala)	KANSL1 (P231A +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2786964	NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe)	KANSL1 (L1009F +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2784040	NM_015443.4(KANSL1):c.2016A>G (p.Pro672=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2783332	NM_015443.4(KANSL1):c.2284C>G (p.Arg762Gly)	KANSL1 (R728G +2 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2770015	NM_015443.4(KANSL1):c.2514_2519dup (p.Ser840_Gln841insSerSer)	KANSL1	Duplication (inframe_insertion)	Koolen-de Vries syndrome	GUncertain significance
Select item 2769000	NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)	KANSL1 (R1011W +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2766846	NM_015443.4(KANSL1):c.2841C>G (p.Ser947=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2765789	NM_015443.4(KANSL1):c.3151G>A (p.Glu1051Lys)	KANSL1 (E1016K +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 2764240	NM_015443.4(KANSL1):c.1796G>A (p.Cys599Tyr)	KANSL1 (C599Y +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2760090	NM_015443.4(KANSL1):c.2998G>A (p.Ala1000Thr)	KANSL1 (A1000T +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2759770	NM_015443.4(KANSL1):c.2034C>G (p.Ser678Arg)	KANSL1 (S256R +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2757057	NM_015443.4(KANSL1):c.2837+20T>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2749304	NM_015443.4(KANSL1):c.2050A>G (p.Met684Val)	KANSL1 (M684V +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 2748422	NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu)	KANSL1 (P486L +1 more)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2746310	NM_015443.4(KANSL1):c.2541G>C (p.Ser847=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2743783	NM_015443.4(KANSL1):c.1533+1G>A	KANSL1	Single nucleotide variant (splice donor variant +1 more)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 2740583	NM_015443.4(KANSL1):c.2901C>A (p.Pro967=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2739558	NM_015443.4(KANSL1):c.1569T>G (p.Gly523=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2737509	NM_015443.4(KANSL1):c.2910C>G (p.Ala970=)	KANSL1	Single nucleotide variant (synonymous variant +1 more)	Koolen-de Vries syndrome	GLikely benign
Select item 2725447	NM_015443.4(KANSL1):c.2980A>G (p.Ser994Gly)	KANSL1 (S508G +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2722152	NM_015443.4(KANSL1):c.3091-15C>A	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2721287	NM_015443.4(KANSL1):c.3109C>T (p.Arg1037Trp)	KANSL1 (R1037W +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2720822	NM_015443.4(KANSL1):c.2145G>A (p.Leu715=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2720184	NM_015443.4(KANSL1):c.2541+18G>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2718794	NM_015443.4(KANSL1):c.2692C>T (p.Leu898=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2718122	NM_015443.4(KANSL1):c.1568G>T (p.Gly523Val)	KANSL1 (G523V +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2717688	NM_015443.4(KANSL1):c.1738G>T (p.Val580Phe)	KANSL1 (V580F +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2717190	NM_015443.4(KANSL1):c.2542-4A>G	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2714226	NM_015443.4(KANSL1):c.1534-13T>C	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2711571	NM_015443.4(KANSL1):c.2631A>G (p.Val877=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2710685	NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)	KANSL1 (R1057C +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2708774	NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val)	KANSL1 (L191V +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance

<< First< Prev

Page of 10