KHNYN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 3138018	NM_001039771.3(CBLN3):c.613C>G (p.Leu205Val)	CBLN3, KHNYN (L205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384588	NM_001039771.3(CBLN3):c.554G>A (p.Arg185Gln)	CBLN3, KHNYN (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221621	NM_001039771.3(CBLN3):c.482C>G (p.Thr161Ser)	CBLN3, KHNYN (T161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255659	NM_001039771.3(CBLN3):c.472C>T (p.Pro158Ser)	CBLN3, KHNYN (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235104	NM_001039771.3(CBLN3):c.364G>A (p.Gly122Ser)	CBLN3, KHNYN (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385474	NM_001039771.3(CBLN3):c.361C>T (p.Arg121Trp)	CBLN3, KHNYN (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520770	NM_001039771.3(CBLN3):c.356C>G (p.Pro119Arg)	CBLN3, KHNYN (P119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338366	NM_001039771.3(CBLN3):c.356C>T (p.Pro119Leu)	CBLN3, KHNYN (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513967	NM_001039771.3(CBLN3):c.349G>A (p.Val117Ile)	CBLN3, KHNYN (V117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617152	NM_001039771.3(CBLN3):c.331C>T (p.Arg111Trp)	CBLN3, KHNYN (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263652	NM_001039771.3(CBLN3):c.319G>A (p.Gly107Ser)	CBLN3, KHNYN (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213944	NM_001039771.3(CBLN3):c.314A>C (p.Glu105Ala)	CBLN3, KHNYN (E105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614849	NM_001039771.3(CBLN3):c.295G>A (p.Asp99Asn)	CBLN3, KHNYN (D99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138017	NM_001039771.3(CBLN3):c.269A>G (p.Asn90Ser)	CBLN3, KHNYN (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319564	NM_001039771.3(CBLN3):c.260A>G (p.Glu87Gly)	CBLN3, KHNYN (E87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618455	NM_001039771.3(CBLN3):c.176C>T (p.Pro59Leu)	CBLN3, KHNYN (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320315	NM_001039771.3(CBLN3):c.131A>C (p.Glu44Ala)	CBLN3, KHNYN (E44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521975	NM_001039771.3(CBLN3):c.110A>C (p.Glu37Ala)	CBLN3, KHNYN (E37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304788	NM_001039771.3(CBLN3):c.88G>A (p.Gly30Arg)	CBLN3, KHNYN (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541615	NM_001039771.3(CBLN3):c.83G>T (p.Gly28Val)	CBLN3, KHNYN (G28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546808	NM_001039771.3(CBLN3):c.19C>T (p.His7Tyr)	CBLN3, KHNYN (H7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138016	NM_001039771.3(CBLN3):c.17C>T (p.Pro6Leu)	CBLN3, KHNYN (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213921	NM_001039771.3(CBLN3):c.7G>A (p.Gly3Arg)	CBLN3, KHNYN (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114024	NM_015299.3(KHNYN):c.37C>G (p.Arg13Gly)	KHNYN (R54G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615568	NM_015299.3(KHNYN):c.94G>A (p.Glu32Lys)	KHNYN (E73K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611108	NM_015299.3(KHNYN):c.97C>T (p.Arg33Cys)	KHNYN (R33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288043	NM_015299.3(KHNYN):c.100A>C (p.Ile34Leu)	KHNYN (I75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288044	NM_015299.3(KHNYN):c.110T>C (p.Val37Ala)	KHNYN (V78A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407058	NM_015299.3(KHNYN):c.148C>G (p.Pro50Ala)	KHNYN (P91A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284938	NM_015299.3(KHNYN):c.190A>T (p.Ser64Cys)	KHNYN (S64C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375337	NM_015299.3(KHNYN):c.260A>G (p.Lys87Arg)	KHNYN (K128R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605692	NM_015299.3(KHNYN):c.337C>T (p.Pro113Ser)	KHNYN (P113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240244	NM_015299.3(KHNYN):c.380C>A (p.Ala127Asp)	KHNYN (A168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492750	NM_015299.3(KHNYN):c.388A>G (p.Met130Val)	KHNYN (M130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348752	NM_015299.3(KHNYN):c.400C>T (p.Arg134Trp)	KHNYN (R134W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482918	NM_015299.3(KHNYN):c.403G>A (p.Val135Ile)	KHNYN (V135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344968	NM_015299.3(KHNYN):c.599G>T (p.Gly200Val)	KHNYN (G200V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204161	NM_015299.3(KHNYN):c.617T>G (p.Leu206Arg)	KHNYN (L206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288041	NM_015299.3(KHNYN):c.638G>C (p.Ser213Thr)	KHNYN (S213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288040	NM_015299.3(KHNYN):c.643G>A (p.Ala215Thr)	KHNYN (A256T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288039	NM_015299.3(KHNYN):c.653G>A (p.Gly218Asp)	KHNYN (G218D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519246	NM_015299.3(KHNYN):c.697G>A (p.Glu233Lys)	KHNYN (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114025	NM_015299.3(KHNYN):c.760G>A (p.Ala254Thr)	KHNYN (A254T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242600	NM_015299.3(KHNYN):c.790G>A (p.Gly264Ser)	KHNYN (G264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242601	NM_015299.3(KHNYN):c.791G>T (p.Gly264Val)	KHNYN (G264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288038	NM_015299.3(KHNYN):c.827C>T (p.Pro276Leu)	KHNYN (P276L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644143	NM_015299.3(KHNYN):c.900A>G (p.Ala300=)	KHNYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615998	NM_015299.3(KHNYN):c.967C>A (p.Arg323Ser)	KHNYN (R364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114019	NM_015299.3(KHNYN):c.1009C>G (p.Gln337Glu)	KHNYN (Q378E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456968	NM_015299.3(KHNYN):c.1064C>T (p.Pro355Leu)	KHNYN (P355L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114021	NM_015299.3(KHNYN):c.1079C>T (p.Pro360Leu)	KHNYN (P360L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321086	NM_015299.3(KHNYN):c.1161C>G (p.Asp387Glu)	KHNYN (D387E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323407	NM_015299.3(KHNYN):c.1167G>T (p.Gln389His)	KHNYN (Q389H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297931	NM_015299.3(KHNYN):c.1264G>T (p.Asp422Tyr)	KHNYN (D422Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260753	NM_015299.3(KHNYN):c.1267C>T (p.Pro423Ser)	KHNYN (P423S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314332	NM_015299.3(KHNYN):c.1337A>G (p.Asn446Ser)	KHNYN (N446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368553	NM_015299.3(KHNYN):c.1378C>T (p.Arg460Trp)	KHNYN (R460W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539634	NM_015299.3(KHNYN):c.1750G>A (p.Gly584Ser)	KHNYN (G625S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220021	NM_015299.3(KHNYN):c.1796G>A (p.Gly599Glu)	KHNYN (G599E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114022	NM_015299.3(KHNYN):c.1812G>C (p.Gln604His)	KHNYN (Q604H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114023	NM_015299.3(KHNYN):c.1838A>G (p.His613Arg)	KHNYN (H613R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212084	NM_015299.3(KHNYN):c.1841G>A (p.Gly614Asp)	KHNYN (G655D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288042	NM_015299.3(KHNYN):c.1856G>A (p.Gly619Glu)	KHNYN (G619E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454411	NM_015299.3(KHNYN):c.1909C>T (p.Arg637Trp)	KHNYN (R637W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265953	NM_015299.3(KHNYN):c.1975C>T (p.Arg659Trp)	KHNYN (R659W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513748	NM_020195.3(SDR39U1):c.785T>C (p.Leu262Pro)	KHNYN, SDR39U1 (L233P +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159065	NM_020195.3(SDR39U1):c.772G>A (p.Ala258Thr)	KHNYN, SDR39U1 (A258T +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552058	NM_020195.3(SDR39U1):c.760G>A (p.Gly254Arg)	KHNYN, SDR39U1 (G146R +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316991	NM_020195.3(SDR39U1):c.751G>A (p.Ala251Thr)	KHNYN, SDR39U1 (A262T +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2456072	NM_020195.3(SDR39U1):c.739G>T (p.Ala247Ser)	KHNYN, SDR39U1 (A139S +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159064	NM_020195.3(SDR39U1):c.716G>A (p.Arg239Gln)	KHNYN, SDR39U1 (R157Q +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316990	NM_020195.3(SDR39U1):c.712C>T (p.Arg238Cys)	KHNYN, SDR39U1 (R238C +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159063	NM_020195.3(SDR39U1):c.603C>G (p.Ile201Met)	KHNYN, SDR39U1 (I119M +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515232	NM_020195.3(SDR39U1):c.587G>T (p.Gly196Val)	KHNYN, SDR39U1 (G167V +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2496010	NM_020195.3(SDR39U1):c.550G>A (p.Gly184Ser)	KHNYN, SDR39U1 (G195S +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159062	NM_020195.3(SDR39U1):c.541G>T (p.Gly181Cys)	KHNYN, SDR39U1 (G192C +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2292415	NM_020195.3(SDR39U1):c.527G>A (p.Arg176His)	KHNYN, SDR39U1 (R187H +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2551190	NM_020195.3(SDR39U1):c.526C>T (p.Arg176Cys)	KHNYN, SDR39U1 (R176C +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2563670	NM_020195.3(SDR39U1):c.512T>C (p.Met171Thr)	KHNYN, SDR39U1 (M171T +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2407602	NM_020195.3(SDR39U1):c.323G>A (p.Gly108Asp)	KHNYN, SDR39U1 (G108D +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2470485	NM_020195.3(SDR39U1):c.316G>C (p.Val106Leu)	KHNYN, SDR39U1 (V129L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159061	NM_020195.3(SDR39U1):c.289C>T (p.Pro97Ser)	KHNYN, SDR39U1 (P68S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2219066	NM_020195.3(SDR39U1):c.263T>G (p.Leu88Trp)	KHNYN, SDR39U1 (L88W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2459718	NM_020195.3(SDR39U1):c.244C>T (p.Arg82Cys)	KHNYN, SDR39U1 (R53C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2337757	NM_020195.3(SDR39U1):c.218C>T (p.Thr73Ile)	KHNYN, SDR39U1 (T44I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided

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