SRPRA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 2259125	NM_024556.4(FAM118B):c.141T>G (p.Ile47Met)	FAM118B, SRPRA (I47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348989	NM_024556.4(FAM118B):c.278G>T (p.Cys93Phe)	FAM118B, SRPRA (C93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209390	NM_024556.4(FAM118B):c.381A>C (p.Leu127Phe)	FAM118B, SRPRA (L127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341821	NM_024556.4(FAM118B):c.389T>C (p.Val130Ala)	FAM118B, SRPRA (V130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297083	NM_024556.4(FAM118B):c.431A>G (p.Gln144Arg)	FAM118B, SRPRA (Q144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260943	NM_024556.4(FAM118B):c.556G>A (p.Asp186Asn)	FAM118B, SRPRA (D186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555580	NM_024556.4(FAM118B):c.593G>C (p.Arg198Pro)	FAM118B, SRPRA (R198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277112	NM_024556.4(FAM118B):c.602G>C (p.Ser201Thr)	FAM118B, SRPRA (S201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277113	NM_024556.4(FAM118B):c.604G>A (p.Val202Met)	FAM118B, SRPRA (V202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221155	NM_024556.4(FAM118B):c.629C>G (p.Thr210Ser)	FAM118B, SRPRA (T210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333025	NM_024556.4(FAM118B):c.637A>C (p.Ser213Arg)	FAM118B, SRPRA (S213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250014	NM_024556.4(FAM118B):c.652C>T (p.His218Tyr)	FAM118B, SRPRA (H218Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529500	NM_024556.4(FAM118B):c.710A>C (p.Lys237Thr)	FAM118B, SRPRA (K237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371891	NM_024556.4(FAM118B):c.890G>C (p.Gly297Ala)	FAM118B, SRPRA (G297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555487	NM_024556.4(FAM118B):c.955T>C (p.Cys319Arg)	FAM118B, SRPRA (C319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205528	NM_024556.4(FAM118B):c.1052C>T (p.Thr351Ile)	FAM118B, SRPRA (T351I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346044	NM_003139.4(SRPRA):c.1717C>T (p.His573Tyr)	SRPRA (H545Y +1 more)	Single nucleotide variant (missense variant)	SRPRA-related disorder	GUncertain significance
Select item 3355403	NM_003139.4(SRPRA):c.1563G>A (p.Thr521=)	SRPRA	Single nucleotide variant (synonymous variant)	SRPRA-related disorder	GLikely benign
Select item 2642522	NM_003139.4(SRPRA):c.1448G>A (p.Gly483Asp)	SRPRA (G455D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3344203	NM_003139.4(SRPRA):c.1447G>A (p.Gly483Ser)	SRPRA (G455S +1 more)	Single nucleotide variant (missense variant)	SRPRA-related disorder	GUncertain significance
Select item 3170054	NM_003139.4(SRPRA):c.1419T>G (p.Ser473Arg)	SRPRA (S473R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810840	NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)	SRPRA (Q436E +1 more)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 2244830	NM_003139.4(SRPRA):c.1376C>T (p.Ala459Val)	SRPRA (A459V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642523	NM_003139.4(SRPRA):c.1372C>G (p.Arg458Gly)	SRPRA (R430G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642524	NM_003139.4(SRPRA):c.1352T>C (p.Ile451Thr)	SRPRA (I423T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690614	NM_003139.4(SRPRA):c.1312-1G>A	SRPRA	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 2642525	NM_003139.4(SRPRA):c.1260C>T (p.Val420=)	SRPRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212996	NM_003139.4(SRPRA):c.800A>G (p.Asn267Ser)	SRPRA (N239S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255175	NM_003139.4(SRPRA):c.736C>T (p.Arg246Trp)	SRPRA (R218W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690158	NM_003139.4(SRPRA):c.671G>A (p.Gly224Asp)	SRPRA (G196D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040360	NM_003139.4(SRPRA):c.365+3GA[2]	SRPRA	Microsatellite (intron variant)	SRPRA-related disorder	GLikely benign
Select item 2635792	NM_003139.4(SRPRA):c.303_308del (p.Gln101_Ala103delinsHis)	SRPRA	Deletion (inframe_indel)	SRPRA-related disorder	GUncertain significance
Select item 2642526	NM_003139.4(SRPRA):c.240C>T (p.Asp80=)	SRPRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236051	NM_003139.4(SRPRA):c.132C>G (p.Asn44Lys)	SRPRA (N44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061484	NM_003139.4(SRPRA):c.78C>T (p.Thr26=)	SRPRA	Single nucleotide variant (synonymous variant)	SRPRA-related disorder	GLikely benign
Select item 2642527	NM_003139.4(SRPRA):c.54C>T (p.Phe18=)	SRPRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1287878	NC_000011.10:g.126268860G>A	FOXRED1, LOC130007025 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 1809172	GRCh37/hg19 11q24.2(chr11:125812020-126308722)x3	RPUSD4, SRPRA +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1808248	GRCh37/hg19 11q24.2(chr11:126100551-126437941)x3	DCPS, FAM118B +5 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	CDON, ACRV1 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 688263	GRCh37/hg19 11q24.2(chr11:126111090-127755537)x3	DCPS, FAM118B +6 more	Copy number gain	not provided	GUncertain significance
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 686511	GRCh37/hg19 11q24.2(chr11:125661975-126610328)x3	CDON, DCPS +11 more	Copy number gain	not provided	GUncertain significance
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 548978	GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1	FOXRED1, ST3GAL4 +39 more	Copy number loss	See cases	GPathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic

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