1240[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 3033584	NM_016227.4(SUCO):c.5G>C (p.Arg2Thr)	SUCO (R2T)	Single nucleotide variant (missense variant)	SUCO-related disorder	GBenign
Select item 3059072	NM_016227.4(SUCO):c.31T>C (p.Ser11Pro)	SUCO (S11P)	Single nucleotide variant (missense variant)	SUCO-related disorder	GBenign
Select item 3038917	NM_014283.5(SUCO):c.-264A>T	LOC129931913, SUCO	Single nucleotide variant (5 prime UTR variant +1 more)	SUCO-related disorder	GBenign
Select item 3059036	NM_014283.5(SUCO):c.-236T>C	LOC129931913, SUCO (L117P)	Single nucleotide variant (5 prime UTR variant +1 more)	SUCO-related disorder	GBenign
Select item 2729440	NM_014283.5(SUCO):c.31G>A (p.Val11Ile)	LOC129931914, SUCO (V11I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3171954	NM_014283.5(SUCO):c.32T>G (p.Val11Gly)	LOC129931914, SUCO (V206G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1637687	NM_014283.5(SUCO):c.42C>T (p.Leu14=)	LOC129931914, SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2111134	NM_014283.5(SUCO):c.61T>C (p.Trp21Arg)	LOC129931914, SUCO (W216R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759728	NM_014283.5(SUCO):c.62+10C>G	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174926	NM_014283.5(SUCO):c.62+16_62+18del	LOC129931914, SUCO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2162925	NM_014283.5(SUCO):c.62+13G>A	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532769	NM_014283.5(SUCO):c.62+15C>A	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014128	NM_014283.5(SUCO):c.62+18C>A	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707444	NM_014283.5(SUCO):c.63-4A>G	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058680	NM_014283.5(SUCO):c.76C>T (p.Arg26Cys)	SUCO (R221C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2420544	NM_014283.5(SUCO):c.77G>A (p.Arg26His)	SUCO (R221H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895281	NM_014283.5(SUCO):c.81A>G (p.Val27=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521428	NM_014283.5(SUCO):c.94_95del (p.Ser32fs)	SUCO (S32fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3005800	NM_014283.5(SUCO):c.91G>A (p.Glu31Lys)	SUCO (E31K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1613212	NM_014283.5(SUCO):c.103G>A (p.Ala35Thr)	SUCO (A230T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1386484	NM_014283.5(SUCO):c.110C>T (p.Ala37Val)	SUCO (A232V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2199465	NM_014283.5(SUCO):c.111G>A (p.Ala37=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3171945	NM_014283.5(SUCO):c.121T>C (p.Tyr41His)	SUCO (Y236H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2716732	NM_014283.5(SUCO):c.129A>T (p.Gln43His)	SUCO (Q238H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1358511	NM_014283.5(SUCO):c.131A>G (p.Asp44Gly)	SUCO (D239G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2106487	NM_014283.5(SUCO):c.161T>G (p.Val54Gly)	SUCO (V249G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528881	NM_014283.5(SUCO):c.178-20TTG[3]	SUCO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1542044	NM_014283.5(SUCO):c.178-1G>A	SUCO	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely benign
Select item 2752947	NM_014283.5(SUCO):c.194C>T (p.Pro65Leu)	SUCO (P65L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2455437	NM_014283.5(SUCO):c.199A>C (p.Asn67His)	SUCO (N67H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1616876	NM_014283.5(SUCO):c.204C>T (p.Ala68=)	SUCO	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2758058	NM_014283.5(SUCO):c.205G>A (p.Glu69Lys)	SUCO (E69K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2731558	NM_014283.5(SUCO):c.238A>G (p.Ile80Val)	SUCO (I80V)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2864930	NM_014283.5(SUCO):c.253C>T (p.His85Tyr)	SUCO (H85Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2876395	NM_014283.5(SUCO):c.265G>C (p.Asp89His)	SUCO (D89H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2915079	NM_014283.5(SUCO):c.288+12C>T	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694132	NM_014283.5(SUCO):c.288+13G>A	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979703	NM_014283.5(SUCO):c.289-14_289-12del	SUCO	Deletion (intron variant)	not provided	GLikely benign
Select item 2819520	NM_014283.5(SUCO):c.294A>G (p.Thr98=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996590	NM_014283.5(SUCO):c.296A>G (p.Glu99Gly)	SUCO (E62G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1616185	NM_014283.5(SUCO):c.317C>T (p.Pro106Leu)	SUCO (P106L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2009696	NM_014283.5(SUCO):c.321G>A (p.Val107=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3171953	NM_014283.5(SUCO):c.322G>A (p.Val108Met)	SUCO (V108M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1583235	NM_014283.5(SUCO):c.330A>G (p.Thr110=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716386	NM_014283.5(SUCO):c.333C>A (p.Leu111=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2311131	NM_014283.5(SUCO):c.343G>T (p.Asp115Tyr)	SUCO (D273Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493693	NM_014283.5(SUCO):c.348G>T (p.Leu116Phe)	SUCO (L79F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2181199	NM_014283.5(SUCO):c.349C>T (p.His117Tyr)	SUCO (H275Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969888	NM_014283.5(SUCO):c.352G>T (p.Glu118Ter)	SUCO (E118* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2694133	NM_014283.5(SUCO):c.365A>G (p.Asn122Ser)	SUCO (N85S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796549	NM_014283.5(SUCO):c.379A>G (p.Ser127Gly)	SUCO (S285G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817281	NM_014283.5(SUCO):c.396T>C (p.Asn132=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1412172	NM_014283.5(SUCO):c.398T>C (p.Ile133Thr)	SUCO (I291T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720665	NM_014283.5(SUCO):c.410C>T (p.Ser137Phe)	SUCO (S100F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2337263	NM_014283.5(SUCO):c.430A>G (p.Ile144Val)	SUCO (I107V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2854497	NM_014283.5(SUCO):c.432C>G (p.Ile144Met)	SUCO (I107M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1585342	NM_014283.5(SUCO):c.438G>A (p.Lys146=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2887833	NM_014283.5(SUCO):c.443+8G>C	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725405	NM_014283.5(SUCO):c.444-17_444-15del	SUCO	Deletion (intron variant)	not provided	GLikely benign
Select item 2896737	NM_014283.5(SUCO):c.461G>A (p.Gly154Asp)	SUCO (G154D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877903	NM_014283.5(SUCO):c.461G>T (p.Gly154Val)	SUCO (G117V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2302899	NM_014283.5(SUCO):c.461G>C (p.Gly154Ala)	SUCO (G154A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1348407	NM_014283.5(SUCO):c.470C>T (p.Pro157Leu)	SUCO (P157L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2918509	NM_014283.5(SUCO):c.477C>A (p.Ala159=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092792	NM_014283.5(SUCO):c.479A>G (p.Lys160Arg)	SUCO (K123R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780592	NM_014283.5(SUCO):c.480A>T (p.Lys160Asn)	SUCO (K318N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065168	NM_014283.5(SUCO):c.498G>A (p.Gln166=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2398900	NM_014283.5(SUCO):c.512G>T (p.Cys171Phe)	SUCO (C134F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171955	NM_014283.5(SUCO):c.518T>A (p.Val173Asp)	SUCO (V331D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2741996	NM_014283.5(SUCO):c.538A>G (p.Ser180Gly)	SUCO (S143G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167694	NM_014283.5(SUCO):c.551A>G (p.Glu184Gly)	SUCO (E147G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2254553	NM_014283.5(SUCO):c.569G>C (p.Ser190Thr)	SUCO (S153T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2139955	NM_014283.5(SUCO):c.579C>G (p.Asp193Glu)	SUCO (D193E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969843	NM_014283.5(SUCO):c.579C>T (p.Asp193=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804620	NM_014283.5(SUCO):c.582-17C>G	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862326	NM_014283.5(SUCO):c.635T>C (p.Ile212Thr)	SUCO (I212T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168345	NM_014283.5(SUCO):c.638_640del (p.Thr213del)	SUCO (T371del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2883544	NM_014283.5(SUCO):c.638C>G (p.Thr213Arg)	SUCO (T176R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2223043	NM_014283.5(SUCO):c.653A>G (p.Glu218Gly)	SUCO (E218G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1402785	NM_014283.5(SUCO):c.664T>G (p.Ser222Ala)	SUCO (S380A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1404543	NM_014283.5(SUCO):c.673G>A (p.Glu225Lys)	SUCO (E188K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074658	NM_014283.5(SUCO):c.681C>T (p.Gly227=)	SUCO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3171956	NM_014283.5(SUCO):c.691C>T (p.Pro231Ser)	SUCO (P231S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2695622	NM_014283.5(SUCO):c.692C>G (p.Pro231Arg)	SUCO (P231R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2826125	NM_014283.5(SUCO):c.700G>T (p.Ala234Ser)	SUCO (A197S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3171957	NM_014283.5(SUCO):c.718A>G (p.Asn240Asp)	SUCO (N398D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1620584	NM_014283.5(SUCO):c.732+7A>G	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740890	NM_014283.5(SUCO):c.732+12A>T	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045178	NM_014283.5(SUCO):c.732+13C>T	SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign

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