"GeneDx"[submitter] AND "PITX2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 347291	NM_000325.6(PITX2):c.*471G>A	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +7 more	GBenign/Likely benign
Select item 183253	NM_000325.6(PITX2):c.*454C>T	PITX2	Single nucleotide variant (3 prime UTR variant)	Anterior segment dysgenesis 1 +7 more	GBenign
Select item 3340404	NM_000325.6(PITX2):c.857C>T (p.Ser286Leu)	PITX2 (S233L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 167472	NM_000325.6(PITX2):c.819G>A (p.Pro273=)	PITX2	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 262718	NM_000325.6(PITX2):c.618T>G (p.Ser206=)	PITX2	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 197884	NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)	PITX2 (A135T +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 2578057	NM_000325.6(PITX2):c.559del (p.Ala187fs)	PITX2 (A134fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3369059	NM_000325.6(PITX2):c.529A>T (p.Met177Leu)	PITX2 (M124L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1068355	NM_000325.6(PITX2):c.430C>T (p.Arg144Trp)	PITX2 (R137W +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +2 more	GLikely pathogenic
Select item 8086	NM_000325.6(PITX2):c.412-11A>G	PITX2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 1218185	NM_000325.6(PITX2):c.412-102G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200825	NM_000325.6(PITX2):c.412-271T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296541	NM_000325.6(PITX2):c.411+196C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238490	NM_000325.6(PITX2):c.411+166C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8090	NM_000325.6(PITX2):c.365G>A (p.Arg122His)	PITX2 (R115H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 474012	NM_000325.6(PITX2):c.206-9C>T	PITX2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1288511	NM_000325.6(PITX2):c.206-62C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233854	NM_000325.6(PITX2):c.206-102G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190280	NM_000325.6(PITX2):c.206-173C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229303	NM_000325.6(PITX2):c.205+89G>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274006	NM_000325.6(PITX2):c.205+71A>G	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209417	NM_000325.6(PITX2):c.-328G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1296530	NM_000325.6(PITX2):c.-388_-387del	PITX2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1262121	NM_000325.6(PITX2):c.-387del	PITX2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1183846	NM_000325.6(PITX2):c.-594C>G	PITX2, LOC129992966	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1271627	NM_153426.3(PITX2):c.185-1779G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247429	NM_153426.3(PITX2):c.185-2070A>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255120	NM_153426.3(PITX2):c.184+166T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367527	NM_153426.3(PITX2):c.178G>A (p.Ala60Thr)	PITX2 (A60T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1262456	NM_153426.3(PITX2):c.47-61C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222383	NM_153426.3(PITX2):c.47-62C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243059	NM_153426.3(PITX2):c.47-105C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285802	NM_153426.3(PITX2):c.-10-30T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259982	NM_153426.3(PITX2):c.-10-105A>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197022	NM_153426.3(PITX2):c.-10-118A>T	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271698	NM_153426.3(PITX2):c.-11+77C>G	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 902339	NM_153427.2(PITX2):c.-392G>T	PITX2	Single nucleotide variant (intron variant)	Ring dermoid of cornea +7 more	GBenign/Likely benign
Select item 903410	NM_153427.2(PITX2):c.-1068C>T	PITX2	Single nucleotide variant (intron variant)	Ring dermoid of cornea +7 more	GBenign
Select item 1707318	NM_001204398.1(PITX2):c.-11+173G>C	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282123	NM_001204398.1(PITX2):c.-11+78G>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1676338	NC_000004.12:g.110642266G>A	PITX2	Single nucleotide variant	not provided	GLikely benign

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Items: 42