ASRGL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 3059422	NM_001083926.2(ASRGL1):c.-9T>C	ASRGL1	Single nucleotide variant (5 prime UTR variant)	ASRGL1-related disorder	GBenign
Select item 1524500	NM_001083926.2(ASRGL1):c.4A>G (p.Asn2Asp)	ASRGL1 (N2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 839389	NM_001083926.2(ASRGL1):c.13G>A (p.Val5Ile)	ASRGL1 (V5I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2980587	NM_001083926.2(ASRGL1):c.16G>A (p.Val6Met)	ASRGL1 (V6M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963383	NM_001083926.2(ASRGL1):c.21C>T (p.Val7=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167856	NM_001083926.2(ASRGL1):c.24C>T (p.His8=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1144952	NM_001083926.2(ASRGL1):c.27C>T (p.Gly9=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591635	NM_001083926.2(ASRGL1):c.30C>T (p.Gly10=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839509	NM_001083926.2(ASRGL1):c.31G>A (p.Gly11Arg)	ASRGL1 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063465	NM_001083926.2(ASRGL1):c.34G>T (p.Ala12Ser)	ASRGL1 (A12S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404484	NM_001083926.2(ASRGL1):c.37G>A (p.Gly13Ser)	ASRGL1 (G13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503938	NM_001083926.2(ASRGL1):c.47C>G (p.Ser16Cys)	ASRGL1 (S16C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971348	NM_001083926.2(ASRGL1):c.50A>G (p.Lys17Arg)	ASRGL1 (K17R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2699113	NM_001083926.2(ASRGL1):c.56G>T (p.Arg19Leu)	ASRGL1 (R19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969179	NM_001083926.2(ASRGL1):c.56G>A (p.Arg19Gln)	ASRGL1 (R19Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1382875	NM_001083926.2(ASRGL1):c.67G>A (p.Val23Met)	ASRGL1 (V23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035687	NM_001083926.2(ASRGL1):c.70C>T (p.His24Tyr)	ASRGL1 (H24Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952128	NM_001083926.2(ASRGL1):c.76G>A (p.Gly26Ser)	ASRGL1 (G26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933545	NM_001083926.2(ASRGL1):c.76G>T (p.Gly26Cys)	ASRGL1 (G26C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025801	NM_001083926.2(ASRGL1):c.78C>T (p.Gly26=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1524258	NM_001083926.2(ASRGL1):c.82G>A (p.Val28Ile)	ASRGL1 (V28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917418	NM_001083926.2(ASRGL1):c.85A>G (p.Arg29Gly)	ASRGL1 (R29G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1475398	NM_001083926.2(ASRGL1):c.97dup (p.Val33fs)	ASRGL1 (V33fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1089241	NM_001083926.2(ASRGL1):c.96C>T (p.Thr32=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170709	NM_001083926.2(ASRGL1):c.97G>A (p.Val33Met)	ASRGL1 (V33M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1623098	NM_001083926.2(ASRGL1):c.99G>C (p.Val33=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955302	NM_001083926.2(ASRGL1):c.100G>A (p.Gly34Ser)	ASRGL1 (G34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166223	NM_001083926.2(ASRGL1):c.111C>T (p.Ile37=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462056	NM_001083926.2(ASRGL1):c.115C>T (p.Arg39Trp)	ASRGL1 (R39W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492859	NM_001083926.2(ASRGL1):c.116G>A (p.Arg39Gln)	ASRGL1 (R39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054789	NM_001083926.2(ASRGL1):c.130G>A (p.Ala44Thr)	ASRGL1 (A44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2368503	NM_001083926.2(ASRGL1):c.137A>G (p.Asp46Gly)	ASRGL1 (D46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1949278	NM_001083926.2(ASRGL1):c.143_178del (p.Val48_Pro59del)	ASRGL1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2983170	NM_001083926.2(ASRGL1):c.141C>A (p.Ala47=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103259	NM_001083926.2(ASRGL1):c.141C>G (p.Ala47=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564596	NM_001083926.2(ASRGL1):c.156C>T (p.Val52=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1077784	NM_001083926.2(ASRGL1):c.156C>G (p.Val52=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169356	NM_001083926.2(ASRGL1):c.162C>T (p.Ala54=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1092187	NM_001083926.2(ASRGL1):c.163C>T (p.Leu55=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056592	NM_001083926.2(ASRGL1):c.163C>G (p.Leu55Val)	ASRGL1 (L55V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356851	NM_001083926.2(ASRGL1):c.170A>G (p.Asp57Gly)	ASRGL1 (D57G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2112138	NM_001083926.2(ASRGL1):c.176C>T (p.Pro59Leu)	ASRGL1 (P59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516947	NM_001083926.2(ASRGL1):c.189A>G (p.Ala63=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1612355	NM_001083926.2(ASRGL1):c.190+11del	ASRGL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1667944	NM_001083926.2(ASRGL1):c.190+12T>C	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966275	NM_001083926.2(ASRGL1):c.190+15C>T	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1386205	NM_001083926.2(ASRGL1):c.191-18A>G	ASRGL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1170578	NM_001083926.2(ASRGL1):c.191-14_191-12del	ASRGL1	Microsatellite (intron variant)	not provided	GBenign
Select item 2118782	NM_001083926.2(ASRGL1):c.191-1G>C	ASRGL1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 842431	NM_001083926.2(ASRGL1):c.191G>A (p.Gly64Asp)	ASRGL1 (G64D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1547671	NM_001083926.2(ASRGL1):c.192T>C (p.Gly64=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1024218	NM_001083926.2(ASRGL1):c.194G>A (p.Cys65Tyr)	ASRGL1 (C65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958349	NM_001083926.2(ASRGL1):c.200C>T (p.Ser67Phe)	ASRGL1 (S67F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541062	NM_001083926.2(ASRGL1):c.204C>T (p.Val68=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913079	NM_001083926.2(ASRGL1):c.205T>C (p.Leu69=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 853054	NM_001083926.2(ASRGL1):c.210C>A (p.Asn70Lys)	ASRGL1 (N70K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2116287	NM_001083926.2(ASRGL1):c.214A>G (p.Asn72Asp)	ASRGL1 (N72D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546683	NM_001083926.2(ASRGL1):c.237T>C (p.Ala79=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469288	NM_001083926.2(ASRGL1):c.239G>T (p.Ser80Ile)	ASRGL1 (S80I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869718	NM_001083926.2(ASRGL1):c.247G>A (p.Asp83Asn)	ASRGL1 (D83N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825003	NM_001083926.2(ASRGL1):c.249T>C (p.Asp83=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955200	NM_001083926.2(ASRGL1):c.255A>C (p.Lys85Asn)	ASRGL1 (K85N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1099807	NM_001083926.2(ASRGL1):c.258C>T (p.Asp86=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091548	NM_001083926.2(ASRGL1):c.259C>T (p.Leu87=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960680	NM_001083926.2(ASRGL1):c.260T>A (p.Leu87Gln)	ASRGL1 (L87Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1626150	NM_001083926.2(ASRGL1):c.267A>G (p.Ala89=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915659	NM_001083926.2(ASRGL1):c.280G>A (p.Ala94Thr)	ASRGL1 (A94T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1057756	NM_001083926.2(ASRGL1):c.280G>T (p.Ala94Ser)	ASRGL1 (A94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572874	NM_001083926.2(ASRGL1):c.282A>G (p.Ala94=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021201	NM_001083926.2(ASRGL1):c.290G>T (p.Cys97Phe)	ASRGL1 (C97F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960321	NM_001083926.2(ASRGL1):c.292A>G (p.Ile98Val)	ASRGL1 (I98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858600	NM_001083926.2(ASRGL1):c.293T>A (p.Ile98Lys)	ASRGL1 (I98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000284	NM_001083926.2(ASRGL1):c.295G>A (p.Ala99Thr)	ASRGL1 (A99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482995	NM_001083926.2(ASRGL1):c.296C>A (p.Ala99Glu)	ASRGL1 (A99E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111070	NM_001083926.2(ASRGL1):c.300T>C (p.Asn100=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1052575	NM_001083926.2(ASRGL1):c.306T>G (p.Ile102Met)	ASRGL1 (I102M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716864	NM_001083926.2(ASRGL1):c.314C>A (p.Ala105Asp)	ASRGL1 (A105D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511454	NM_001083926.2(ASRGL1):c.317G>A (p.Arg106Gln)	ASRGL1 (R106Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193167	NM_001083926.2(ASRGL1):c.325A>G (p.Met109Val)	ASRGL1 (M109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786029	NM_001083926.2(ASRGL1):c.327G>A (p.Met109Ile)	ASRGL1 (M109I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503493	NM_001083926.2(ASRGL1):c.328G>T (p.Glu110Ter)	ASRGL1 (E110*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1994663	NM_001083926.2(ASRGL1):c.333G>T (p.Lys111Asn)	ASRGL1 (K111N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396550	NM_001083926.2(ASRGL1):c.333+3A>T	ASRGL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 964066	NM_001083926.2(ASRGL1):c.333+5A>G	ASRGL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 935407	NM_001083926.2(ASRGL1):c.333+6T>C	ASRGL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2047061	NM_001083926.2(ASRGL1):c.333+16G>A	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112270	NM_001083926.2(ASRGL1):c.334-20_334-16del	ASRGL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1994642	NM_001083926.2(ASRGL1):c.334-20C>A	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944808	NM_001083926.2(ASRGL1):c.334-14dup	ASRGL1	Duplication (intron variant)	not provided	GBenign
Select item 1915579	NM_001083926.2(ASRGL1):c.334-18C>A	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846670	NM_001083926.2(ASRGL1):c.334-16T>C	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927488	NM_001083926.2(ASRGL1):c.334-9C>T	ASRGL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1114208	NM_001083926.2(ASRGL1):c.334-9del	ASRGL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1981465	NM_001083926.2(ASRGL1):c.363C>T (p.Gly121=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 972324	NM_001083926.2(ASRGL1):c.368C>T (p.Ala123Val)	ASRGL1 (A123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022149	NM_001083926.2(ASRGL1):c.369G>C (p.Ala123=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086890	NM_001083926.2(ASRGL1):c.369G>A (p.Ala123=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489684	NM_001083926.2(ASRGL1):c.371A>C (p.Gln124Pro)	ASRGL1 (Q124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735629	NM_001083926.2(ASRGL1):c.375T>C (p.Phe125=)	ASRGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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