29032[HGNC] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 146375	GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3	ALG1, C16orf89 +29 more	Copy number gain	See cases	GLikely benign
Select item 2294704	NM_014692.2(SEC14L5):c.29G>A (p.Arg10Gln)	SEC14L5 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159161	NM_014692.2(SEC14L5):c.37A>G (p.Lys13Glu)	SEC14L5 (K13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159149	NM_014692.2(SEC14L5):c.154G>A (p.Val52Met)	SEC14L5 (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159157	NM_014692.2(SEC14L5):c.214A>T (p.Ile72Phe)	SEC14L5 (I72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379893	NM_014692.2(SEC14L5):c.221G>C (p.Gly74Ala)	SEC14L5 (G74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317029	NM_014692.2(SEC14L5):c.261C>G (p.Asn87Lys)	SEC14L5 (N87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159158	NM_014692.2(SEC14L5):c.262T>A (p.Trp88Arg)	SEC14L5 (W88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359579	NM_014692.2(SEC14L5):c.271A>G (p.Arg91Gly)	SEC14L5 (R91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159159	NM_014692.2(SEC14L5):c.277C>T (p.Leu93Phe)	SEC14L5 (L93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320862	NM_014692.2(SEC14L5):c.296A>G (p.Asn99Ser)	SEC14L5 (N99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159160	NM_014692.2(SEC14L5):c.317T>C (p.Val106Ala)	SEC14L5 (V106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541412	NM_014692.2(SEC14L5):c.469A>G (p.Lys157Glu)	SEC14L5 (K157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619945	NM_014692.2(SEC14L5):c.536C>T (p.Pro179Leu)	SEC14L5 (P179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392797	NM_014692.2(SEC14L5):c.556G>A (p.Val186Ile)	SEC14L5 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409675	NM_014692.2(SEC14L5):c.574C>T (p.Arg192Cys)	SEC14L5 (R192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457371	NM_014692.2(SEC14L5):c.590C>T (p.Pro197Leu)	SEC14L5 (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317028	NM_014692.2(SEC14L5):c.616C>G (p.His206Asp)	SEC14L5 (H206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159162	NM_014692.2(SEC14L5):c.653C>T (p.Ala218Val)	SEC14L5 (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547328	NM_014692.2(SEC14L5):c.658A>G (p.Ser220Gly)	SEC14L5 (S220G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159163	NM_014692.2(SEC14L5):c.659G>A (p.Ser220Asn)	SEC14L5 (S220N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354982	NM_014692.2(SEC14L5):c.672C>G (p.Asp224Glu)	SEC14L5 (D224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159164	NM_014692.2(SEC14L5):c.683C>T (p.Ala228Val)	SEC14L5 (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265191	NM_014692.2(SEC14L5):c.683C>G (p.Ala228Gly)	SEC14L5 (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363029	NM_014692.2(SEC14L5):c.749G>A (p.Arg250Gln)	SEC14L5 (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159165	NM_014692.2(SEC14L5):c.805C>T (p.Arg269Trp)	SEC14L5 (R269W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616395	NM_014692.2(SEC14L5):c.821A>G (p.His274Arg)	SEC14L5 (H274R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317033	NM_014692.2(SEC14L5):c.842C>G (p.Ala281Gly)	SEC14L5 (A281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224319	NM_014692.2(SEC14L5):c.844C>T (p.Arg282Trp)	SEC14L5 (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211888	NM_014692.2(SEC14L5):c.845G>A (p.Arg282Gln)	SEC14L5 (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233557	NM_014692.2(SEC14L5):c.852G>T (p.Met284Ile)	SEC14L5 (M284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590678	NM_014692.2(SEC14L5):c.856C>T (p.Arg286Cys)	SEC14L5 (R286C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535417	NM_014692.2(SEC14L5):c.857G>A (p.Arg286His)	SEC14L5 (R286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317034	NM_014692.2(SEC14L5):c.994C>T (p.Arg332Cys)	SEC14L5 (R332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468460	NM_014692.2(SEC14L5):c.1019G>C (p.Gly340Ala)	SEC14L5 (G340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261578	NM_014692.2(SEC14L5):c.1051C>G (p.Leu351Val)	SEC14L5 (L351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159145	NM_014692.2(SEC14L5):c.1069G>C (p.Val357Leu)	SEC14L5 (V357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159146	NM_014692.2(SEC14L5):c.1091G>A (p.Arg364Gln)	SEC14L5 (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528508	NM_014692.2(SEC14L5):c.1120C>A (p.Arg374Ser)	SEC14L5 (R374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317032	NM_014692.2(SEC14L5):c.1187C>T (p.Pro396Leu)	SEC14L5 (P396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386790	NM_014692.2(SEC14L5):c.1207C>T (p.Arg403Trp)	SEC14L5 (R403W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476483	NM_014692.2(SEC14L5):c.1212G>A (p.Met404Ile)	SEC14L5 (M404I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159147	NM_014692.2(SEC14L5):c.1309C>G (p.Pro437Ala)	SEC14L5 (P437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617885	NM_014692.2(SEC14L5):c.1309C>A (p.Pro437Thr)	SEC14L5 (P437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523171	NM_014692.2(SEC14L5):c.1309C>T (p.Pro437Ser)	SEC14L5 (P437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589375	NM_014692.2(SEC14L5):c.1319A>G (p.Asn440Ser)	SEC14L5 (N440S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317026	NM_014692.2(SEC14L5):c.1334G>A (p.Arg445Gln)	SEC14L5 (R445Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465094	NM_014692.2(SEC14L5):c.1423G>T (p.Gly475Trp)	SEC14L5 (G475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159148	NM_014692.2(SEC14L5):c.1480A>G (p.Met494Val)	SEC14L5 (M494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463297	NM_014692.2(SEC14L5):c.1520A>G (p.Gln507Arg)	SEC14L5 (Q507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317031	NM_014692.2(SEC14L5):c.1592A>C (p.Glu531Ala)	SEC14L5 (E531A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474202	NM_014692.2(SEC14L5):c.1700C>T (p.Thr567Ile)	SEC14L5 (T567I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495618	NM_014692.2(SEC14L5):c.1726A>G (p.Lys576Glu)	SEC14L5 (K576E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159150	NM_014692.2(SEC14L5):c.1785G>T (p.Glu595Asp)	SEC14L5 (E595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159151	NM_014692.2(SEC14L5):c.1817G>A (p.Arg606Gln)	SEC14L5 (R606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317027	NM_014692.2(SEC14L5):c.1825G>A (p.Gly609Ser)	SEC14L5 (G609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329923	NM_014692.2(SEC14L5):c.1832A>G (p.Tyr611Cys)	SEC14L5 (Y611C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159152	NM_014692.2(SEC14L5):c.1888G>A (p.Gly630Ser)	SEC14L5 (G630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317030	NM_014692.2(SEC14L5):c.1907C>T (p.Thr636Met)	SEC14L5 (T636M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159153	NM_014692.2(SEC14L5):c.1957G>A (p.Val653Met)	SEC14L5 (V653M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159154	NM_014692.2(SEC14L5):c.1963G>A (p.Ala655Thr)	SEC14L5 (A655T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159155	NM_014692.2(SEC14L5):c.1974C>G (p.Asp658Glu)	SEC14L5 (D658E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458046	NM_014692.2(SEC14L5):c.2032G>A (p.Ala678Thr)	SEC14L5 (A678T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217070	NM_014692.2(SEC14L5):c.2051C>T (p.Ser684Phe)	SEC14L5 (S684F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159156	NM_014692.2(SEC14L5):c.2063C>G (p.Ser688Cys)	SEC14L5 (S688C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623888	NM_014692.2(SEC14L5):c.2084C>G (p.Ser695Cys)	SEC14L5 (S695C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684780	GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3	ALG1, C16orf89 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1341226	GRCh37/hg19 16p13.3(chr16:4971767-5023403)x1	PPL, SEC14L5	Copy number loss	not provided	GLikely benign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815774	GRCh37/hg19 16p13.3(chr16:5023441-5080086)x1	SEC14L5, NAGPA	Copy number loss	not provided	GUncertain significance
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 98