IGSF10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 152901	GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3	GPR171, GPR87 +11 more	Copy number gain	See cases	GUncertain significance
Select item 153052	GRCh38/hg38 3q25.1(chr3:151396286-151842231)x1	AADAC, AADACL2 +8 more	Copy number loss	See cases	GUncertain significance
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	AADAC, AADACL2 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 3124895	NM_001393769.1(MED12L):c.6495C>G (p.Asn2165Lys)	IGSF10, MED12L (N2130K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596850	NM_001393769.1(MED12L):c.6537C>G (p.His2179Gln)	IGSF10, MED12L (H2179Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623235	NM_178822.5(IGSF10):c.7860T>G (p.Ile2620Met)	IGSF10 (I599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197454	NM_178822.5(IGSF10):c.7854G>A (p.Thr2618=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361415	NM_178822.5(IGSF10):c.7853C>T (p.Thr2618Met)	IGSF10 (T2618M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 812140	NM_178822.5(IGSF10):c.7849del (p.Ala2617fs)	IGSF10 (A2617fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure	GUncertain significance
Select item 708312	NM_178822.5(IGSF10):c.7840G>A (p.Asp2614Asn)	IGSF10, MED12L (D2614N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410169	NM_178822.5(IGSF10):c.7837A>G (p.Ser2613Gly)	IGSF10 (S2613G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1614226	NM_178822.5(IGSF10):c.7735C>T (p.His2579Tyr)	IGSF10 (H2579Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2722741	NM_178822.5(IGSF10):c.7730G>C (p.Arg2577Thr)	IGSF10 (R2577T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723907	NM_178822.5(IGSF10):c.7726G>C (p.Glu2576Gln)	IGSF10 (E555Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2218359	NM_178822.5(IGSF10):c.7715C>G (p.Thr2572Arg)	IGSF10 (T2572R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1394395	NM_178822.5(IGSF10):c.7715C>T (p.Thr2572Met)	IGSF10 (T2572M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1598558	NM_178822.5(IGSF10):c.7683A>G (p.Thr2561=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601252	NM_178822.5(IGSF10):c.7607G>A (p.Arg2536Lys)	IGSF10 (R2536K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1909888	NM_178822.5(IGSF10):c.7586G>A (p.Arg2529Gln)	IGSF10 (R2529Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441895	NM_178822.5(IGSF10):c.7567_7570dup (p.Val2524fs)	IGSF10 (V503fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 732950	NM_178822.5(IGSF10):c.7568T>C (p.Ile2523Thr)	IGSF10 (I2523T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2751965	NM_178822.5(IGSF10):c.7565T>A (p.Met2522Lys)	IGSF10 (M501K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720758	NM_178822.5(IGSF10):c.7548_7551dup (p.Thr2518fs)	IGSF10 (T497fs +1 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 1532394	NM_178822.5(IGSF10):c.7539T>C (p.Gly2513=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514652	NM_178822.5(IGSF10):c.7477A>G (p.Ile2493Val)	IGSF10 (I472V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410700	NM_178822.5(IGSF10):c.7450A>G (p.Ile2484Val)	IGSF10 (I463V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946452	NM_178822.5(IGSF10):c.7429C>T (p.Pro2477Ser)	IGSF10 (P456S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663673	NM_178822.5(IGSF10):c.7426A>T (p.Arg2476Trp)	IGSF10 (R2476W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784027	NM_178822.5(IGSF10):c.7374A>G (p.Gly2458=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712512	NM_178822.5(IGSF10):c.7350_7353dup (p.Leu2452fs)	IGSF10 (L2452fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 775917	NM_178822.5(IGSF10):c.7348C>T (p.Leu2450=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3285613	NM_178822.5(IGSF10):c.7346C>T (p.Ser2449Phe)	IGSF10 (S2449F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2018616	NM_178822.5(IGSF10):c.7342G>T (p.Glu2448Ter)	IGSF10 (E427* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2045068	NM_178822.5(IGSF10):c.7334_7336dup (p.Ile2445_Ser2446insIle)	IGSF10	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3002249	NM_178822.5(IGSF10):c.7314A>G (p.Ala2438=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070440	NM_178822.5(IGSF10):c.7311T>C (p.Tyr2437=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787612	NM_178822.5(IGSF10):c.7305T>C (p.Leu2435=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3108832	NM_178822.5(IGSF10):c.7303C>A (p.Leu2435Ile)	IGSF10 (L2435I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108831	NM_178822.5(IGSF10):c.7300A>G (p.Ile2434Val)	IGSF10 (I2434V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343890	NM_178822.5(IGSF10):c.7294C>A (p.Pro2432Thr)	IGSF10 (P411T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242429	NM_178822.5(IGSF10):c.7279G>A (p.Glu2427Lys)	IGSF10 (E406K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458905	NM_178822.5(IGSF10):c.7273A>C (p.Ile2425Leu)	IGSF10 (I2425L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 787613	NM_178822.5(IGSF10):c.7254C>T (p.Gly2418=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306903	NM_178822.5(IGSF10):c.7246A>C (p.Lys2416Gln)	IGSF10 (K2416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2181900	NM_178822.5(IGSF10):c.7229G>A (p.Arg2410His)	IGSF10 (R389H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 756898	NM_178822.5(IGSF10):c.7217C>T (p.Ala2406Val)	IGSF10 (A2406V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2597219	NM_178822.5(IGSF10):c.7179T>A (p.Asn2393Lys)	IGSF10 (N372K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108830	NM_178822.5(IGSF10):c.7169T>C (p.Ile2390Thr)	IGSF10 (I369T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2981566	NM_178822.5(IGSF10):c.7152_7153del (p.Ser2385fs)	IGSF10 (S364fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 767939	NM_178822.5(IGSF10):c.7152A>G (p.Gln2384=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1936149	NM_178822.5(IGSF10):c.7151A>G (p.Gln2384Arg)	IGSF10 (Q2384R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2389791	NM_178822.5(IGSF10):c.7124A>G (p.Asn2375Ser)	IGSF10 (N354S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2895264	NM_178822.5(IGSF10):c.7109T>C (p.Ile2370Thr)	IGSF10 (I349T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1601101	NM_178822.5(IGSF10):c.7101T>G (p.Pro2367=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2421603	NM_178822.5(IGSF10):c.7096C>T (p.Pro2366Ser)	IGSF10 (P2366S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051037	NM_178822.5(IGSF10):c.7080T>C (p.Ser2360=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476462	NM_178822.5(IGSF10):c.7079C>T (p.Ser2360Phe)	IGSF10 (S2360F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715053	NM_178822.5(IGSF10):c.7010C>T (p.Pro2337Leu)	IGSF10 (P316L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3108829	NM_178822.5(IGSF10):c.6997A>G (p.Met2333Val)	IGSF10 (M2333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1355362	NM_178822.5(IGSF10):c.6977T>C (p.Val2326Ala)	IGSF10 (V2326A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419163	NM_178822.5(IGSF10):c.6967G>A (p.Val2323Met)	IGSF10 (V2323M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1640207	NM_178822.5(IGSF10):c.6966C>T (p.Ser2322=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3108828	NM_178822.5(IGSF10):c.6938G>C (p.Cys2313Ser)	IGSF10 (C292S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108827	NM_178822.5(IGSF10):c.6931T>G (p.Phe2311Val)	IGSF10 (F290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2048358	NM_178822.5(IGSF10):c.6927C>T (p.Ala2309=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038330	NM_178822.5(IGSF10):c.6908_6909del (p.Val2303fs)	IGSF10 (V2303fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3108826	NM_178822.5(IGSF10):c.6880A>C (p.Lys2294Gln)	IGSF10 (K273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108825	NM_178822.5(IGSF10):c.6879T>G (p.His2293Gln)	IGSF10 (H2293Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1924918	NM_178822.5(IGSF10):c.6772C>T (p.His2258Tyr)	IGSF10 (H2258Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2597887	NM_178822.5(IGSF10):c.6746C>A (p.Ala2249Asp)	IGSF10 (A228D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494265	NM_178822.5(IGSF10):c.6731G>C (p.Arg2244Thr)	IGSF10 (R223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600158	NM_178822.5(IGSF10):c.6729C>T (p.Asn2243=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2794345	NM_178822.5(IGSF10):c.6692T>G (p.Val2231Gly)	IGSF10 (V210G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940659	NM_178822.5(IGSF10):c.6686A>C (p.Asp2229Ala)	IGSF10 (D2229A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3108822	NM_178822.5(IGSF10):c.6650A>G (p.Asn2217Ser)	IGSF10 (N196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1633498	NM_178822.5(IGSF10):c.6647G>A (p.Arg2216Gln)	IGSF10 (R195Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1406850	NM_178822.5(IGSF10):c.6634_6635del (p.Val2212fs)	IGSF10 (V2212fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2288163	NM_178822.5(IGSF10):c.6634G>A (p.Val2212Ile)	IGSF10 (V191I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2722581	NM_178822.5(IGSF10):c.6633C>T (p.Tyr2211=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1599482	NM_178822.5(IGSF10):c.6591T>G (p.Ser2197=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1511829	NM_178822.5(IGSF10):c.6581C>T (p.Ala2194Val)	IGSF10 (A173V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285612	NM_178822.5(IGSF10):c.6566G>A (p.Arg2189Lys)	IGSF10 (R2189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371900	NM_178822.5(IGSF10):c.6565A>G (p.Arg2189Gly)	IGSF10 (R2189G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108821	NM_178822.5(IGSF10):c.6560T>C (p.Ile2187Thr)	IGSF10 (I2187T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3347766	NM_178822.5(IGSF10):c.6539A>G (p.Asn2180Ser)	IGSF10 (N159S +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GUncertain significance
Select item 2532351	NM_178822.5(IGSF10):c.6536C>G (p.Ser2179Cys)	IGSF10 (S158C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238119	NM_178822.5(IGSF10):c.6503A>C (p.Asp2168Ala)	IGSF10 (D147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773140	NM_178822.5(IGSF10):c.6483T>C (p.Leu2161=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3035993	NM_178822.5(IGSF10):c.6457A>G (p.Ile2153Val)	IGSF10 (I132V +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 2312893	NM_178822.5(IGSF10):c.6450C>A (p.Asn2150Lys)	IGSF10 (N129K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732951	NM_178822.5(IGSF10):c.6447C>T (p.Thr2149=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2144519	NM_178822.5(IGSF10):c.6431G>A (p.Arg2144Lys)	IGSF10 (R123K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045294	NM_178822.5(IGSF10):c.6405A>C (p.Thr2135=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3108820	NM_178822.5(IGSF10):c.6398A>C (p.His2133Pro)	IGSF10 (H112P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285630	NM_178822.5(IGSF10):c.6368A>G (p.Asn2123Ser)	IGSF10 (N2123S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791957	NM_178822.5(IGSF10):c.6336G>A (p.Ala2112=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746778	NM_178822.5(IGSF10):c.6336G>T (p.Ala2112=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GBenign

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