SRGAP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3354671	NM_020762.4(SRGAP1):c.5C>A (p.Ser2Tyr)	SRGAP1 (S2Y)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 747751	NM_020762.4(SRGAP1):c.67+9G>A	SRGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 725157	NM_020762.4(SRGAP1):c.145C>T (p.Leu49=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3047245	NM_020762.4(SRGAP1):c.161G>A (p.Arg54Gln)	SRGAP1 (R54Q)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 1050742	NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met)	SRGAP1 (T61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750428	NM_020762.4(SRGAP1):c.183G>A (p.Thr61=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330236	NM_020762.4(SRGAP1):c.207G>C (p.Lys69Asn)	SRGAP1 (K69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169961	NM_020762.4(SRGAP1):c.222C>A (p.Phe74Leu)	SRGAP1 (F74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057491	NM_020762.4(SRGAP1):c.427-4A>T	SRGAP1	Single nucleotide variant (intron variant)	SRGAP1-related disorder	GLikely benign
Select item 208456	NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)	SRGAP1 (Q149H)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 3169967	NM_020762.4(SRGAP1):c.452A>T (p.His151Leu)	SRGAP1 (H151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169968	NM_020762.4(SRGAP1):c.488C>T (p.Thr163Met)	SRGAP1 (T163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031469	NM_020762.4(SRGAP1):c.555C>T (p.Ala185=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder	GLikely benign
Select item 2340851	NM_020762.4(SRGAP1):c.631C>T (p.Arg211Trp)	SRGAP1 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727379	NM_020762.4(SRGAP1):c.673-4C>G	SRGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2351347	NM_020762.4(SRGAP1):c.719G>A (p.Arg240Gln)	SRGAP1 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931830	NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)	SRGAP1 (L245fs)	Insertion (frameshift variant)	Thyroid cancer, nonmedullary, 2	GUncertain significance
Select item 1711350	NM_020762.4(SRGAP1):c.760G>A (p.Val254Ile)	SRGAP1 (V254I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345698	NM_020762.4(SRGAP1):c.799G>T (p.Asp267Tyr)	SRGAP1 (D267Y)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 2635302	NM_020762.4(SRGAP1):c.805_806delinsGT (p.Cys269Val)	SRGAP1 (C269V)	Indel (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 684621	NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)	SRGAP1 (C269Y)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 208457	NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)	SRGAP1 (A275T)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 2615742	NM_020762.4(SRGAP1):c.851A>G (p.Tyr284Cys)	SRGAP1 (Y284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345052	NM_020762.4(SRGAP1):c.936G>A (p.Arg312=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder	GLikely benign
Select item 2279390	NM_020762.4(SRGAP1):c.940G>A (p.Asp314Asn)	SRGAP1 (D314N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643158	NM_020762.4(SRGAP1):c.1023+29G>A	SRGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710135	NM_020762.4(SRGAP1):c.1113C>T (p.Ile371=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 763282	NM_020762.4(SRGAP1):c.1126-8A>G	SRGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779528	NM_020762.4(SRGAP1):c.1137G>A (p.Thr379=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2381567	NM_020762.4(SRGAP1):c.1138A>T (p.Thr380Ser)	SRGAP1 (T380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271096	NM_020762.4(SRGAP1):c.1164A>C (p.Gln388His)	SRGAP1 (Q388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169957	NM_020762.4(SRGAP1):c.1217G>A (p.Arg406His)	SRGAP1 (R406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031809	NM_020762.4(SRGAP1):c.1323+6C>T	SRGAP1	Single nucleotide variant (intron variant)	SRGAP1-related disorder	GLikely benign
Select item 3036649	NM_020762.4(SRGAP1):c.1324-9dup	SRGAP1	Duplication (intron variant)	SRGAP1-related disorder	GLikely benign
Select item 3044370	NM_020762.4(SRGAP1):c.1476G>A (p.Lys492=)	SRGAP1	Single nucleotide variant (synonymous variant +1 more)	SRGAP1-related disorder	GLikely benign
Select item 2397079	NM_020762.4(SRGAP1):c.1496A>G (p.Tyr499Cys)	SRGAP1 (Y499C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 764852	NM_020762.4(SRGAP1):c.1533C>T (p.Phe511=)	SRGAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734831	NM_020762.4(SRGAP1):c.1540-10C>T	SRGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2643159	NM_020762.4(SRGAP1):c.1613_1614del (p.Gln538fs)	SRGAP1 (Q515fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3169958	NM_020762.4(SRGAP1):c.1658T>C (p.Ile553Thr)	SRGAP1 (I553T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710136	NM_020762.4(SRGAP1):c.1705A>G (p.Ser569Gly)	SRGAP1 (S546G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735327	NM_020762.4(SRGAP1):c.1734C>G (p.Gly578=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169959	NM_020762.4(SRGAP1):c.1744C>T (p.Leu582Phe)	SRGAP1 (L582F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322631	NM_020762.4(SRGAP1):c.1786A>G (p.Arg596Gly)	SRGAP1 (R596G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208458	NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)	SRGAP1 (R617C +1 more)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2 +1 more	GLikely benign; risk factor
Select item 2382197	NM_020762.4(SRGAP1):c.1850G>A (p.Arg617His)	SRGAP1 (R617H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541500	NM_020762.4(SRGAP1):c.1869G>T (p.Leu623Phe)	SRGAP1 (L623F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212994	NM_020762.4(SRGAP1):c.1906G>T (p.Ala636Ser)	SRGAP1 (A613S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757406	NM_020762.4(SRGAP1):c.1919+8C>T	SRGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684622	NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr)	SRGAP1 (P642T +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 1050135	NM_020762.4(SRGAP1):c.2063T>C (p.Ile688Thr)	SRGAP1 (I665T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236134	NM_020762.4(SRGAP1):c.2077A>G (p.Ile693Val)	SRGAP1 (I670V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169960	NM_020762.4(SRGAP1):c.2111T>G (p.Val704Gly)	SRGAP1 (V681G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749611	NM_020762.4(SRGAP1):c.2124T>C (p.Cys708=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399628	NM_020762.4(SRGAP1):c.2146G>A (p.Asp716Asn)	SRGAP1 (D693N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353046	NM_020762.4(SRGAP1):c.2166C>T (p.His722=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder	GLikely benign
Select item 739690	NM_020762.4(SRGAP1):c.2225-7G>A	SRGAP1	Single nucleotide variant (intron variant)	Thyroid cancer, nonmedullary, 2 +1 more	GLikely benign
Select item 3031096	NM_020762.4(SRGAP1):c.2279G>A (p.Arg760Lys)	SRGAP1 (R737K +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 728882	NM_020762.4(SRGAP1):c.2304C>T (p.Ala768=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785416	NM_020762.4(SRGAP1):c.2358C>T (p.Asn786=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044353	NM_020762.4(SRGAP1):c.2367C>T (p.Asp789=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder	GLikely benign
Select item 769826	NM_020762.4(SRGAP1):c.2415G>A (p.Thr805=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3169962	NM_020762.4(SRGAP1):c.2491A>G (p.Lys831Glu)	SRGAP1 (K831E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539647	NM_020762.4(SRGAP1):c.2503T>C (p.Ser835Pro)	SRGAP1 (S835P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286199	NM_020762.4(SRGAP1):c.2515C>G (p.Arg839Gly)	SRGAP1 (R839G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169963	NM_020762.4(SRGAP1):c.2537C>T (p.Ala846Val)	SRGAP1 (A846V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295600	NM_020762.4(SRGAP1):c.2551A>G (p.Arg851Gly)	SRGAP1 (R828G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643160	NM_020762.4(SRGAP1):c.2562A>G (p.Pro854=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988161	NM_020762.4(SRGAP1):c.2566C>G (p.Pro856Ala)	SRGAP1 (P833A +1 more)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 2494199	NM_020762.4(SRGAP1):c.2600G>T (p.Gly867Val)	SRGAP1 (G844V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783036	NM_020762.4(SRGAP1):c.2624A>G (p.His875Arg)	SRGAP1 (H875R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2632760	NM_020762.4(SRGAP1):c.2698C>G (p.Arg900Gly)	SRGAP1 (R877G +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 3169964	NM_020762.4(SRGAP1):c.2731C>T (p.Arg911Cys)	SRGAP1 (R888C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997934	NM_020762.4(SRGAP1):c.2734A>G (p.Arg912Gly)	SRGAP1 (R889G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169965	NM_020762.4(SRGAP1):c.2751C>G (p.Ser917Arg)	SRGAP1 (S894R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322629	NM_020762.4(SRGAP1):c.2767C>T (p.Arg923Trp)	SRGAP1 (R900W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546846	NM_020762.4(SRGAP1):c.2768G>A (p.Arg923Gln)	SRGAP1 (R923Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768563	NM_020762.4(SRGAP1):c.2772C>T (p.His924=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 763910	NM_020762.4(SRGAP1):c.2790C>T (p.Ile930=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595046	NM_020762.4(SRGAP1):c.2825G>A (p.Gly942Glu)	SRGAP1 (G919E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394910	NM_020762.4(SRGAP1):c.2834C>T (p.Thr945Met)	SRGAP1 (T922M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278211	NM_020762.4(SRGAP1):c.2847C>A (p.Asp949Glu)	SRGAP1 (D949E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781259	NM_020762.4(SRGAP1):c.2857C>G (p.Leu953Val)	SRGAP1 (L930V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3338525	NM_020762.4(SRGAP1):c.2881G>A (p.Asp961Asn)	SRGAP1 (D938N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532810	NM_020762.4(SRGAP1):c.3017C>T (p.Thr1006Met)	SRGAP1 (T983M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724261	NM_020762.4(SRGAP1):c.3042C>T (p.Asn1014=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322630	NM_020762.4(SRGAP1):c.3076C>T (p.Arg1026Cys)	SRGAP1 (R1026C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458568	NM_020762.4(SRGAP1):c.3077G>A (p.Arg1026His)	SRGAP1 (R1026H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355521	NM_020762.4(SRGAP1):c.3083C>T (p.Thr1028Met)	SRGAP1 (T1005M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720720	NM_020762.4(SRGAP1):c.3084G>A (p.Thr1028=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3169966	NM_020762.4(SRGAP1):c.3107G>A (p.Ser1036Asn)	SRGAP1 (S1013N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544338	NM_020762.4(SRGAP1):c.3121A>G (p.Met1041Val)	SRGAP1 (M1018V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319990	NM_020762.4(SRGAP1):c.3233C>T (p.Pro1078Leu)	SRGAP1 (P1055L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242108	NM_020762.4(SRGAP1):c.3240C>G (p.Asp1080Glu)	SRGAP1 (D1057E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2425930	NC_000012.11:g.(?_64198994)_(64238683_?)dup	RXYLT1, SRGAP1	Duplication	not provided	GUncertain significance

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