"Natera, Inc."[submitter] AND "ADGRG1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585948	NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)	ADGRG1 (S5L)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 585950	NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met)	ADGRG1 (T9M)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria +2 more	GConflicting classifications of pathogenicity
Select item 739447	NM_201525.4(ADGRG1):c.111G>A (p.Gln37=)	ADGRG1	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1017436	NM_201525.4(ADGRG1):c.157G>C (p.Asp53His)	ADGRG1 (D53H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 435352	NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 789837	NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser)	ADGRG1 (P72S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 430049	NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter)	ADGRG1 (R79* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 792720	NM_201525.4(ADGRG1):c.246T>C (p.Pro82=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 158630	NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln)	ADGRG1 (R96Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 446806	NM_201525.4(ADGRG1):c.304C>T (p.His102Tyr)	ADGRG1 (H102Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 381530	NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter)	ADGRG1 (Q123* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 158631	NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)	ADGRG1 (P134L +2 more)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria +2 more	GConflicting classifications of pathogenicity
Select item 764376	NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro)	ADGRG1 (T138P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1130907	NM_201525.4(ADGRG1):c.462C>T (p.Ala154=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1256159	NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr)	ADGRG1 (P112T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 158632	NM_201525.4(ADGRG1):c.504C>T (p.Ala168=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 792477	NM_201525.4(ADGRG1):c.553C>T (p.Leu185=)	ADGRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 158633	NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)	ADGRG1	Single nucleotide variant (synonymous variant +1 more)	ADGRG1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 765895	NM_201525.4(ADGRG1):c.621-5G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 596586	NM_201525.4(ADGRG1):c.641C>G (p.Ser214Trp)	ADGRG1 (S214W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265187	NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu)	ADGRG1 (S214L +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign/Likely benign
Select item 372729	NM_201525.4(ADGRG1):c.671del (p.Asp224fs)	ADGRG1 (D172fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 886783	NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys)	ADGRG1 (E54K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735534	NM_201525.4(ADGRG1):c.711G>A (p.Val237=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 5828	NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs)	ADGRG1 (Q247fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 888059	NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp)	ADGRG1 (R259W +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 766179	NM_201525.4(ADGRG1):c.801G>C (p.Val267=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127268	NM_201525.4(ADGRG1):c.831G>A (p.Thr277=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123362	NM_201525.4(ADGRG1):c.840G>A (p.Arg280=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137493	NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)	ADGRG1 (S281R +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 158638	NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)	ADGRG1 (G282R +4 more)	Single nucleotide variant (missense variant)	ADGRG1-related condition +4 more	GBenign/Likely benign
Select item 158640	NM_201525.4(ADGRG1):c.918A>C (p.Gln306His)	ADGRG1 (Q306H +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 739382	NM_201525.4(ADGRG1):c.937T>C (p.Leu313=)	ADGRG1	Single nucleotide variant (synonymous variant)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 158641	NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)	ADGRG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 158612	NM_201525.4(ADGRG1):c.1017+8G>A	ADGRG1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 761881	NM_201525.4(ADGRG1):c.1143C>T (p.His381=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797429	NM_201525.4(ADGRG1):c.1146G>A (p.Leu382=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989970	NM_201525.4(ADGRG1):c.1170C>A (p.Val390=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989971	NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met)	ADGRG1 (V220M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497887	NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1146141	NM_201525.4(ADGRG1):c.1200G>A (p.Lys400=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721086	NM_201525.4(ADGRG1):c.1236C>T (p.Val412=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 725812	NM_201525.4(ADGRG1):c.1270G>A (p.Ala424Thr)	ADGRG1 (A249T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137494	NM_201525.4(ADGRG1):c.1286+6G>A	ADGRG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 287126	NM_201525.4(ADGRG1):c.1287-28G>C	ADGRG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 425108	NM_201525.4(ADGRG1):c.1287-6G>A	ADGRG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158617	NM_201525.4(ADGRG1):c.1338C>T (p.Ala446=)	ADGRG1	Single nucleotide variant (synonymous variant)	Bilateral frontoparietal polymicrogyria +2 more	GBenign
Select item 435356	NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=)	ADGRG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 737031	NM_201525.4(ADGRG1):c.1377G>A (p.Pro459=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158618	NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)	ADGRG1 (R476* +7 more)	Single nucleotide variant (nonsense)	Bilateral frontoparietal polymicrogyria +2 more	GPathogenic
Select item 137495	NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)	ADGRG1 (M493T +7 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 792460	NM_201525.4(ADGRG1):c.1491C>T (p.Leu497=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133221	NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158624	NM_201525.4(ADGRG1):c.1665-5C>T	ADGRG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 450489	NM_201525.4(ADGRG1):c.1665G>T (p.Met555Ile)	ADGRG1 (M561I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546510	NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys)	ADGRG1 (R600C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804874	NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg)	ADGRG1 (W431R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194391	NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1156292	NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 194522	NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)	ADGRG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1133499	NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585949	NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His)	ADGRG1 (R692H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 62