11070[HGNC] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 2287208	NM_182932.3(SLC8A3):c.2731A>G (p.Thr911Ala)	SLC8A3 (T274A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734933	NM_182932.3(SLC8A3):c.2730C>T (p.Ala910=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2240987	NM_182932.3(SLC8A3):c.2640C>A (p.His880Gln)	SLC8A3 (H243Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785465	NM_182932.3(SLC8A3):c.2541G>C (p.Glu847Asp)	SLC8A3 (E853D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2204996	NM_182932.3(SLC8A3):c.2452G>A (p.Val818Met)	SLC8A3 (V824M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320251	NM_182932.3(SLC8A3):c.2431G>T (p.Ala811Ser)	SLC8A3 (A811S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226928	NM_182932.3(SLC8A3):c.2411C>G (p.Ala804Gly)	SLC8A3 (A808G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330558	NM_182932.3(SLC8A3):c.2389+6A>G	SLC8A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2311128	NM_182932.3(SLC8A3):c.2368G>A (p.Ala790Thr)	SLC8A3 (A153T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205392	NM_182932.3(SLC8A3):c.2297T>C (p.Ile766Thr)	SLC8A3 (I143T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303224	NM_182932.3(SLC8A3):c.2261T>C (p.Val754Ala)	SLC8A3 (V117A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390231	NM_182932.3(SLC8A3):c.2260G>A (p.Val754Ile)	SLC8A3 (V758I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742134	NM_182932.3(SLC8A3):c.2172C>T (p.Tyr724=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3165650	NM_182932.3(SLC8A3):c.2140G>A (p.Gly714Arg)	SLC8A3 (G717R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328657	NM_182932.3(SLC8A3):c.2122G>A (p.Glu708Lys)	SLC8A3 (E708K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484397	NM_182932.3(SLC8A3):c.2086T>C (p.Phe696Leu)	SLC8A3 (F59L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328656	NM_182932.3(SLC8A3):c.2014A>G (p.Thr672Ala)	SLC8A3 (T49A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566004	NM_182932.3(SLC8A3):c.1910C>A (p.Thr637Asn)	SLC8A3 (T637N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302788	NM_182932.3(SLC8A3):c.1903A>G (p.Lys635Glu)	SLC8A3 (K12E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277177	NM_182932.3(SLC8A3):c.1889-3696T>G	SLC8A3 (L631R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617731	NM_182932.3(SLC8A3):c.1889-3699C>T	SLC8A3 (A630V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3165649	NM_182932.3(SLC8A3):c.1868G>T (p.Trp623Leu)	LOC126861981, SLC8A3 (W623L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2237091	NM_182932.3(SLC8A3):c.1760T>G (p.Leu587Trp)	SLC8A3 (L587W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161796	NM_182932.3(SLC8A3):c.1690G>A (p.Val564Ile)	SLC8A3 (V564I)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3165648	NM_182932.3(SLC8A3):c.1673C>T (p.Ala558Val)	SLC8A3 (A558V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264193	NM_182932.3(SLC8A3):c.1637G>C (p.Gly546Ala)	SLC8A3 (G546A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393291	NM_182932.3(SLC8A3):c.1516C>T (p.Leu506Phe)	SLC8A3 (L506F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209500	NM_182932.3(SLC8A3):c.1499C>T (p.Pro500Leu)	SLC8A3 (P500L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320247	NM_182932.3(SLC8A3):c.1498C>T (p.Pro500Ser)	SLC8A3 (P500S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515715	NM_182932.3(SLC8A3):c.1462C>T (p.Arg488Cys)	SLC8A3 (R488C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788706	NM_182932.3(SLC8A3):c.1440C>T (p.Phe480=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2264794	NM_182932.3(SLC8A3):c.1424A>C (p.Glu475Ala)	SLC8A3 (E475A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742372	NM_182932.3(SLC8A3):c.1404A>C (p.Ile468=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614368	NM_182932.3(SLC8A3):c.1378A>G (p.Thr460Ala)	SLC8A3 (T460A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320248	NM_182932.3(SLC8A3):c.1270G>A (p.Asp424Asn)	SLC8A3 (D424N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492968	NM_182932.3(SLC8A3):c.1216C>A (p.Gln406Lys)	SLC8A3 (Q406K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165646	NM_182932.3(SLC8A3):c.1180T>C (p.Phe394Leu)	SLC8A3 (F394L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165645	NM_182932.3(SLC8A3):c.1052G>A (p.Arg351His)	SLC8A3 (R351H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552018	NM_182932.3(SLC8A3):c.944A>G (p.Glu315Gly)	SLC8A3 (E315G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770617	NM_182932.3(SLC8A3):c.940A>G (p.Arg314Gly)	SLC8A3 (R314G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2361631	NM_182932.3(SLC8A3):c.809A>G (p.His270Arg)	SLC8A3 (H270R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165657	NM_182932.3(SLC8A3):c.808C>T (p.His270Tyr)	SLC8A3 (H270Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165656	NM_182932.3(SLC8A3):c.797G>A (p.Arg266His)	SLC8A3 (R266H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591019	NM_182932.3(SLC8A3):c.745T>C (p.Trp249Arg)	SLC8A3 (W249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708581	NM_182932.3(SLC8A3):c.705C>T (p.Leu235=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3320250	NM_182932.3(SLC8A3):c.703C>T (p.Leu235Phe)	SLC8A3 (L235F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273981	NM_182932.3(SLC8A3):c.701G>T (p.Gly234Val)	SLC8A3 (G234V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225066	NM_182932.3(SLC8A3):c.685G>A (p.Val229Ile)	SLC8A3 (V229I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568735	NM_182932.3(SLC8A3):c.640T>C (p.Tyr214His)	SLC8A3 (Y214H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165654	NM_182932.3(SLC8A3):c.602G>A (p.Arg201Gln)	SLC8A3 (R201Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459974	NM_182932.3(SLC8A3):c.584G>A (p.Arg195His)	SLC8A3 (R195H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589314	NM_182932.3(SLC8A3):c.574G>A (p.Gly192Arg)	SLC8A3 (G192R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727243	NM_182932.3(SLC8A3):c.572A>G (p.Asp191Gly)	SLC8A3 (D191G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2352221	NM_182932.3(SLC8A3):c.562G>A (p.Val188Met)	SLC8A3 (V188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165652	NM_182932.3(SLC8A3):c.550A>G (p.Ile184Val)	SLC8A3 (I184V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390391	NM_182932.3(SLC8A3):c.545T>C (p.Ile182Thr)	SLC8A3 (I182T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209074	NM_182932.3(SLC8A3):c.538A>G (p.Ile180Val)	SLC8A3 (I180V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235969	NM_182932.3(SLC8A3):c.511G>A (p.Val171Ile)	SLC8A3 (V171I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243426	NM_182932.3(SLC8A3):c.418G>A (p.Ala140Thr)	SLC8A3 (A140T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457926	NM_182932.3(SLC8A3):c.376A>G (p.Ile126Val)	SLC8A3 (I126V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165651	NM_182932.3(SLC8A3):c.349C>T (p.Pro117Ser)	SLC8A3 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320502	NM_182932.3(SLC8A3):c.341T>C (p.Ile114Thr)	SLC8A3 (I114T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365304	NM_182932.3(SLC8A3):c.332A>G (p.Glu111Gly)	SLC8A3 (E111G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382721	NM_182932.3(SLC8A3):c.290G>A (p.Arg97His)	SLC8A3 (R97H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305278	NM_182932.3(SLC8A3):c.187T>C (p.Trp63Arg)	SLC8A3 (W63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320249	NM_182932.3(SLC8A3):c.175A>G (p.Ile59Val)	SLC8A3 (I59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244403	NM_182932.3(SLC8A3):c.160T>C (p.Cys54Arg)	SLC8A3 (C54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718671	NM_182932.3(SLC8A3):c.156G>A (p.Ser52=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3165655	NM_182932.3(SLC8A3):c.77A>G (p.Asn26Ser)	SLC8A3 (N26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231031	NM_182932.3(SLC8A3):c.56T>C (p.Val19Ala)	SLC8A3 (V19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405847	NM_182932.3(SLC8A3):c.35C>T (p.Ala12Val)	SLC8A3 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719222	NM_182932.3(SLC8A3):c.30C>A (p.Thr10=)	SLC8A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2685493	GRCh37/hg19 14q24.2(chr14:70651622-70949256)x1	ADAM21, COX16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	ACTN1, CCDC177 +13 more	Deletion	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 83