SND1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 718333	NM_014390.4(SND1):c.14_34dup (p.Ala5_Ser11dup)	SND1	Duplication (inframe_insertion)	not provided	GBenign
Select item 726681	NM_014390.4(SND1):c.15G>C (p.Ala5=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337623	NM_014390.4(SND1):c.20G>A (p.Ser7Asn)	SND1 (S7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166967	NM_014390.4(SND1):c.53C>A (p.Thr18Asn)	SND1 (T18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770564	NM_014390.4(SND1):c.79-4G>A	SND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787863	NM_014390.4(SND1):c.102T>A (p.Ile34=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498252	NM_014390.4(SND1):c.119G>A (p.Arg40His)	SND1 (R40H)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 744005	NM_014390.4(SND1):c.129T>A (p.Pro43=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233924	NM_014390.4(SND1):c.194C>T (p.Ala65Val)	SND1 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369361	NM_014390.4(SND1):c.292A>G (p.Thr98Ala)	SND1 (T98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 796889	NM_014390.4(SND1):c.294G>A (p.Thr98=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619108	NM_014390.4(SND1):c.427A>C (p.Asn143His)	SND1 (N143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709901	NM_014390.4(SND1):c.429-4C>T	SND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3166966	NM_014390.4(SND1):c.454T>G (p.Cys152Gly)	SND1 (C152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396048	NM_014390.4(SND1):c.506G>A (p.Gly169Asp)	SND1 (G169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268588	NM_014390.4(SND1):c.508T>G (p.Ser170Ala)	SND1 (S170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745295	NM_014390.4(SND1):c.612C>T (p.Asp204=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557976	NM_014390.4(SND1):c.659C>T (p.Thr220Ile)	SND1 (T220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469919	NM_014390.4(SND1):c.752T>A (p.Phe251Tyr)	SND1 (F251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166968	NM_014390.4(SND1):c.817A>G (p.Ile273Val)	SND1 (I273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479172	NM_014390.4(SND1):c.848A>G (p.Asn283Ser)	SND1 (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052600	NM_014390.4(SND1):c.858G>A (p.Glu286=)	SND1	Single nucleotide variant (synonymous variant)	SND1-related disorder	GLikely benign
Select item 2478940	NM_014390.4(SND1):c.902T>G (p.Ile301Ser)	SND1 (I301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166969	NM_014390.4(SND1):c.916C>T (p.Arg306Trp)	SND1 (R306W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787864	NM_014390.4(SND1):c.921C>T (p.Gly307=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2322817	NM_014390.4(SND1):c.922G>A (p.Ala308Thr)	SND1 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572209	NM_014390.4(SND1):c.977G>A (p.Trp326Ter)	SND1 (W326*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2519838	NM_014390.4(SND1):c.1018G>C (p.Asp340His)	SND1 (D340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347993	NM_014390.4(SND1):c.1070T>C (p.Val357Ala)	SND1 (V357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166958	NM_014390.4(SND1):c.1099A>G (p.Thr367Ala)	SND1 (T367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166959	NM_014390.4(SND1):c.1138G>T (p.Gly380Trp)	SND1 (G380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 2385460	NM_014390.4(SND1):c.1253C>T (p.Thr418Met)	SND1 (T418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166960	NM_014390.4(SND1):c.1435C>A (p.Leu479Met)	SND1 (L479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368516	NM_014390.4(SND1):c.1472A>G (p.Lys491Arg)	SND1 (K491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 798605	NM_014390.4(SND1):c.1497G>T (p.Val499=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166961	NM_014390.4(SND1):c.1499C>G (p.Pro500Arg)	SND1 (P500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166962	NM_014390.4(SND1):c.1508G>A (p.Arg503His)	SND1 (R503H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282836	NM_014390.4(SND1):c.1540G>A (p.Ala514Thr)	SND1 (A514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234016	NM_014390.4(SND1):c.1546C>G (p.Gln516Glu)	SND1 (Q516E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776258	NM_014390.4(SND1):c.1548G>A (p.Gln516=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732373	NM_014390.4(SND1):c.1593G>A (p.Val531=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3030890	NM_014390.4(SND1):c.1694G>A (p.Arg565Gln)	SND1 (R565Q)	Single nucleotide variant (missense variant)	SND1-related disorder	GUncertain significance
Select item 2283949	NM_022143.5(LRRC4):c.1925C>T (p.Thr642Ile)	LRRC4, SND1 (T642I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365808	NM_022143.5(LRRC4):c.1900A>G (p.Ile634Val)	LRRC4, SND1 (I634V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327451	NM_022143.5(LRRC4):c.1831A>C (p.Lys611Gln)	LRRC4, SND1 (K611Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294944	NM_022143.5(LRRC4):c.1795C>T (p.Pro599Ser)	LRRC4, SND1 (P599S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455163	NM_022143.5(LRRC4):c.1716C>G (p.Asp572Glu)	LRRC4, SND1 (D572E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405846	NM_022143.5(LRRC4):c.1693A>G (p.Thr565Ala)	LRRC4, SND1 (T565A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120685	NM_022143.5(LRRC4):c.1690C>T (p.Arg564Trp)	LRRC4, SND1 (R564W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781113	NM_022143.5(LRRC4):c.1686C>T (p.Ala562=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776259	NM_022143.5(LRRC4):c.1635T>C (p.Ile545=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1440757	NM_022143.5(LRRC4):c.1546C>T (p.Gln516Ter)	LRRC4, SND1 (Q516*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2463062	NM_022143.5(LRRC4):c.1451A>G (p.Gln484Arg)	LRRC4, SND1 (Q484R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390257	NM_022143.5(LRRC4):c.1409C>T (p.Thr470Met)	LRRC4, SND1 (T470M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535345	NM_022143.5(LRRC4):c.1408A>C (p.Thr470Pro)	LRRC4, SND1 (T470P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594333	NM_022143.5(LRRC4):c.1397C>T (p.Pro466Leu)	LRRC4, SND1 (P466L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617615	NM_022143.5(LRRC4):c.1319A>G (p.Asn440Ser)	LRRC4, SND1 (N440S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120684	NM_022143.5(LRRC4):c.1307C>G (p.Ser436Trp)	LRRC4, SND1 (S436W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120683	NM_022143.5(LRRC4):c.1223C>T (p.Thr408Ile)	LRRC4, SND1 (T408I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374167	NM_022143.5(LRRC4):c.1190G>A (p.Arg397His)	LRRC4, SND1 (R397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120682	NM_022143.5(LRRC4):c.1139C>A (p.Ser380Tyr)	LRRC4, SND1 (S380Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720375	NM_022143.5(LRRC4):c.1114C>T (p.Leu372Phe)	LRRC4, SND1 (L372F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1266302	NM_022143.5(LRRC4):c.1110A>G (p.Ala370=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3120681	NM_022143.5(LRRC4):c.1073C>T (p.Ala358Val)	LRRC4, SND1 (A358V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344314	NM_022143.5(LRRC4):c.1033C>G (p.Gln345Glu)	LRRC4, SND1 (Q345E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 501459	NM_022143.5(LRRC4):c.895C>G (p.His299Asp)	LRRC4, SND1 (H299D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3120687	NM_022143.5(LRRC4):c.853C>G (p.Leu285Val)	LRRC4, SND1 (L285V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258265	NM_022143.5(LRRC4):c.837T>A (p.Ser279=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2410029	NM_022143.5(LRRC4):c.734A>G (p.Lys245Arg)	LRRC4, SND1 (K245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120686	NM_022143.5(LRRC4):c.656G>C (p.Gly219Ala)	LRRC4, SND1 (G219A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265222	NM_022143.5(LRRC4):c.625A>G (p.Lys209Glu)	LRRC4, SND1 (K209E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429021	NM_022143.5(LRRC4):c.426_438delinsTGACAGTCA (p.Phe143fs)	LRRC4, SND1 (F143fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2527847	NM_022143.5(LRRC4):c.119C>T (p.Ser40Leu)	LRRC4, SND1 (S40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618875	NM_014390.4(SND1):c.1829G>C (p.Trp610Ser)	SND1 (W610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749767	NM_014390.4(SND1):c.1842C>T (p.Asp614=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657979	NM_014390.4(SND1):c.1843G>A (p.Gly615Ser)	SND1 (G615S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 207881	NM_014390.4(SND1):c.1871A>C (p.Glu624Ala)	SND1 (E624A)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 725940	NM_014390.4(SND1):c.1875C>T (p.His625=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285906	NM_014390.4(SND1):c.1916A>G (p.Tyr639Cys)	SND1 (Y639C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657980	NM_014390.4(SND1):c.1923G>A (p.Lys641=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347669	NM_014390.4(SND1):c.1934C>G (p.Ser645Cys)	SND1 (S645C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404836	NM_014390.4(SND1):c.1958A>T (p.Lys653Met)	SND1 (K653M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213378	NM_014390.4(SND1):c.2005G>A (p.Val669Met)	SND1 (V669M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742486	NM_014390.4(SND1):c.2052C>T (p.Pro684=)	SND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611781	NM_014390.4(SND1):c.2165C>T (p.Pro722Leu)	SND1 (P722L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166964	NM_014390.4(SND1):c.2221G>A (p.Val741Ile)	SND1 (V741I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166965	NM_014390.4(SND1):c.2246G>A (p.Arg749Gln)	SND1 (R749Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408628	NM_014390.4(SND1):c.2326C>T (p.Arg776Cys)	SND1 (R776C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369138	NM_014390.4(SND1):c.2383G>C (p.Glu795Gln)	SND1 (E795Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400013	NM_014390.4(SND1):c.2432C>T (p.Thr811Met)	SND1 (T811M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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