SYNCRIP[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	LOC121740658, LOC123775380 +247 more	Copy number loss	See cases	GPathogenic
Select item 148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	C6orf163, CGA +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 2631938	NM_006372.5(SYNCRIP):c.1864T>C (p.Trp622Arg)	SYNCRIP (W524R +2 more)	Single nucleotide variant (missense variant +1 more)	SYNCRIP-related disorder	GUncertain significance
Select item 3172670	NM_006372.5(SYNCRIP):c.1863G>T (p.Gln621His)	SYNCRIP (Q586H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510643	NM_006372.5(SYNCRIP):c.1835A>T (p.Glu612Val)	SYNCRIP (E577V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2335568	NM_006372.5(SYNCRIP):c.1823C>G (p.Ser608Cys)	SYNCRIP (S510C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3172669	NM_006372.5(SYNCRIP):c.1811A>G (p.Tyr604Cys)	SYNCRIP (Y569C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GBenign
Select item 2580097	NM_006372.5(SYNCRIP):c.1802C>G (p.Ser601Cys)	SYNCRIP (S503C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3040778	NM_006372.5(SYNCRIP):c.1788A>G (p.Gln596=)	SYNCRIP	Single nucleotide variant (synonymous variant +1 more)	SYNCRIP-related disorder	GLikely benign
Select item 3046652	NM_006372.5(SYNCRIP):c.1776G>A (p.Gln592=)	SYNCRIP	Single nucleotide variant (synonymous variant +1 more)	SYNCRIP-related disorder	GLikely benign
Select item 3172668	NM_006372.5(SYNCRIP):c.1742A>G (p.Asn581Ser)	SYNCRIP (N483S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635401	NM_006372.5(SYNCRIP):c.1682T>G (p.Val561Gly)	SYNCRIP (V463G +2 more)	Single nucleotide variant (missense variant +1 more)	SYNCRIP-related disorder	GUncertain significance
Select item 3052971	NM_006372.5(SYNCRIP):c.1644C>T (p.Arg548=)	SYNCRIP	Single nucleotide variant (synonymous variant)	SYNCRIP-related disorder	GLikely benign
Select item 2178199	NM_006372.5(SYNCRIP):c.1642C>T (p.Arg548Cys)	SYNCRIP (R548C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619956	NM_006372.5(SYNCRIP):c.1640G>T (p.Gly547Val)	SYNCRIP (G547V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172667	NM_006372.5(SYNCRIP):c.1603G>A (p.Val535Ile)	SYNCRIP (V383I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996686	NM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu)	SYNCRIP (Q373L +3 more)	Indel (missense variant)	Autism spectrum disorder	Gassociation
Select item 2250353	NM_006372.5(SYNCRIP):c.1564G>A (p.Gly522Ser)	SYNCRIP (G522S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 978125	NM_006372.5(SYNCRIP):c.1561G>A (p.Ala521Thr)	SYNCRIP (A369T +3 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2656734	NM_006372.5(SYNCRIP):c.1554C>T (p.Arg518=)	SYNCRIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2635369	NM_006372.5(SYNCRIP):c.1523C>T (p.Pro508Leu)	SYNCRIP (P356L +3 more)	Single nucleotide variant (missense variant)	SYNCRIP-related disorder	GUncertain significance
Select item 1526182	NM_006372.5(SYNCRIP):c.1368T>G (p.Tyr456Ter)	SYNCRIP (Y304* +3 more)	Single nucleotide variant (nonsense)	SYNCRIP-related neurodevelopmental disorder	GUncertain significance
Select item 3172666	NM_006372.5(SYNCRIP):c.1324C>G (p.Pro442Ala)	SYNCRIP (P290A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136198	NM_006372.5(SYNCRIP):c.1275T>A (p.Asn425Lys)	SYNCRIP (N273K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307200	NM_006372.5(SYNCRIP):c.1215del (p.Phe405fs)	SYNCRIP (F253fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2356994	NM_006372.5(SYNCRIP):c.1040A>G (p.Asn347Ser)	SYNCRIP (N249S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611001	NM_006372.5(SYNCRIP):c.1036G>A (p.Ala346Thr)	SYNCRIP (A194T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2771862	NM_006372.5(SYNCRIP):c.944G>A (p.Gly315Glu)	SYNCRIP (G217E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 987161	NM_006372.5(SYNCRIP):c.858_859del (p.Gly287fs)	SYNCRIP (G135fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 872610	NM_006372.5(SYNCRIP):c.854dup (p.Asn285fs)	SYNCRIP (N133fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2419300	NM_006372.5(SYNCRIP):c.728A>G (p.Asn243Ser)	SYNCRIP (N145S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685156	NM_006372.5(SYNCRIP):c.700A>G (p.Ile234Val)	SYNCRIP (I136V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514544	NM_006372.5(SYNCRIP):c.662A>C (p.Lys221Thr)	SYNCRIP (K123T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343277	NM_006372.5(SYNCRIP):c.646G>A (p.Ala216Thr)	SYNCRIP (A118T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 996685	NM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser)	SYNCRIP (F112S +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2296143	NM_006372.5(SYNCRIP):c.626C>T (p.Thr209Ile)	SYNCRIP (T111I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573687	NM_006372.5(SYNCRIP):c.560C>T (p.Pro187Leu)	SYNCRIP (P187L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2332729	NM_006372.5(SYNCRIP):c.539C>A (p.Pro180Gln)	SYNCRIP (P28Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1311979	NM_006372.5(SYNCRIP):c.489G>C (p.Glu163Asp)	SYNCRIP (E163D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575665	NM_006372.5(SYNCRIP):c.485C>A (p.Thr162Asn)	SYNCRIP (T162N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576614	NM_006372.5(SYNCRIP):c.438dup (p.Pro147fs)	SYNCRIP (D3fs +2 more)	Duplication (frameshift variant)	SYNCRIP-associated neurodevelopmental disorder	GLikely pathogenic
Select item 3032201	NM_006372.5(SYNCRIP):c.302C>T (p.Thr101Ile)	SYNCRIP (T101I +1 more)	Single nucleotide variant (missense variant +1 more)	SYNCRIP-related disorder	GUncertain significance
Select item 2297641	NM_006372.5(SYNCRIP):c.171A>T (p.Leu57Phe)	SYNCRIP (L57F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389804	NM_006372.5(SYNCRIP):c.64A>G (p.Ile22Val)	SYNCRIP (I22V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 996860	NM_006372.5(SYNCRIP):c.47A>G (p.Asp16Gly)	SYNCRIP (D16G)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2289018	NM_006372.5(SYNCRIP):c.15T>A (p.His5Gln)	SYNCRIP (H5Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067816	GRCh37/hg19 6q14.3(chr6:86322600-86329135)x1	SYNCRIP	Copy number loss	not provided	GUncertain significance
Select item 2580356	GRCh37/hg19 6q14.3(chr6:86281805-86351207)x1	SNX14, SYNCRIP	Copy number loss	SYNCRIP-associated neurodevelopmental disorder	GLikely pathogenic
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808789	GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3	AKIRIN2, C6orf163 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 973604	GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4	NT5E, SNHG5 +4 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441565	GRCh37/hg19 6q14.3(chr6:85770403-87222520)x3	NT5E, SNHG5 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 65