Related gene-specific medical variations for Gene (Select 55214) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058357	NM_018192.4(P3H2):c.-3A>G	LOC123464484, P3H2	Single nucleotide variant (5 prime UTR variant +1 more)	P3H2-related condition	GLikely benign
Select item 2966483	NM_018192.4(P3H2):c.321G>T (p.Leu107=)	LOC129938149, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876753	NM_018192.4(P3H2):c.291del (p.Gly100fs)	LOC129938149, P3H2 (G100fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2690665	NM_018192.4(P3H2):c.297dup (p.Gly100fs)	P3H2, LOC129938149 (G100fs)	Duplication (frameshift variant +1 more)	Myopia, high, with cataract and vitreoretinal degeneration	GLikely pathogenic
Select item 2622532	NM_018192.4(P3H2):c.290C>G (p.Pro97Arg)	LOC129938149, P3H2 (P97R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2161317	NM_018192.4(P3H2):c.307C>T (p.Pro103Ser)	LOC129938149, P3H2 (P103S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2129309	NM_018192.4(P3H2):c.293C>A (p.Pro98His)	LOC129938149, P3H2 (P98H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2115048	NM_018192.4(P3H2):c.292C>T (p.Pro98Ser)	P3H2, LOC129938149 (P98S)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 2113369	NM_018192.4(P3H2):c.306C>A (p.Gly102=)	LOC129938149, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067197	NM_018192.4(P3H2):c.285G>A (p.Pro95=)	LOC129938149, P3H2	Single nucleotide variant (synonymous variant +1 more)	P3H2-related condition +1 more	GLikely benign
Select item 2055535	NM_018192.4(P3H2):c.43C>T (p.Pro15Ser)	LOC123464484, P3H2 (P15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044870	NM_018192.4(P3H2):c.350C>T (p.Ala117Val)	LOC129938149, P3H2 (A117V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2033057	NM_018192.4(P3H2):c.54G>A (p.Leu18=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009999	NM_018192.4(P3H2):c.39_50dup (p.Pro19_Pro20insLeuLeuLeuPro)	LOC123464484, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1973369	NM_018192.4(P3H2):c.63A>G (p.Pro21=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941011	NM_018192.4(P3H2):c.24G>A (p.Pro8=)	LOC123464484, P3H2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1937434	NM_018192.4(P3H2):c.4C>G (p.Arg2Gly)	LOC123464484, P3H2 (R2G)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1915307	NM_018192.4(P3H2):c.50T>C (p.Leu17Pro)	LOC123464484, P3H2 (L17P)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1646019	NM_018192.4(P3H2):c.60G>A (p.Pro20=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1646008	NM_018192.4(P3H2):c.39G>C (p.Leu13=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1594231	NM_018192.4(P3H2):c.354C>T (p.Arg118=)	LOC129938149, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1582444	NM_018192.4(P3H2):c.285G>T (p.Pro95=)	LOC129938149, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1494535	NM_018192.4(P3H2):c.44_49dup (p.Pro15_Leu16dup)	LOC123464484, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1487221	NM_018192.4(P3H2):c.23_40del (p.Pro8_Leu13del)	LOC123464484, P3H2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1478015	NM_018192.4(P3H2):c.281_286dup (p.Leu94_Pro95dup)	LOC129938149, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1476934	NM_018192.4(P3H2):c.47T>C (p.Leu16Pro)	LOC123464484, P3H2 (L16P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1476064	NM_018192.4(P3H2):c.48_62dup (p.Leu18_Leu22dup)	LOC123464484, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1453213	NM_018192.4(P3H2):c.26del (p.Pro9fs)	LOC123464484, P3H2 (P9fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1416747	NM_018192.4(P3H2):c.41T>C (p.Leu14Pro)	LOC123464484, P3H2 (L14P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1414748	NM_018192.4(P3H2):c.59C>A (p.Pro20Gln)	LOC123464484, P3H2 (P20Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287584	NM_001134418.2(P3H2):c.-64+863del	P3H2, P3H2-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1228781	NM_001134418.2(P3H2):c.-64+872G>A	P3H2, P3H2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217208	NM_018192.3(P3H2):c.-187G>A	LOC123464484, P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198734	NM_001134418.2(P3H2):c.-64+1049G>C	LOC129938150, P3H2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165663	NM_018192.4(P3H2):c.340T>C (p.Leu114=)	LOC129938149, P3H2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1165195	NM_018192.4(P3H2):c.313G>A (p.Ala105Thr)	LOC129938149, P3H2 (A105T)	Single nucleotide variant (missense variant +1 more)	P3H2-related condition +1 more	GBenign/Likely benign
Select item 1151829	NM_018192.4(P3H2):c.33G>A (p.Leu11=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1147082	NM_018192.4(P3H2):c.21G>A (p.Ala7=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1141235	NM_018192.4(P3H2):c.27G>C (p.Pro9=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1140440	NM_018192.4(P3H2):c.30G>C (p.Leu10=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1102181	NM_018192.4(P3H2):c.57G>A (p.Pro19=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1091036	NM_018192.4(P3H2):c.37C>T (p.Leu13=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1079390	NM_018192.4(P3H2):c.327T>C (p.Leu109=)	LOC129938149, P3H2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1079388	NM_018192.4(P3H2):c.63A>C (p.Pro21=)	LOC123464484, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1050963	NM_018192.4(P3H2):c.42_50dup (p.Pro15_Leu17dup)	LOC123464484, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1044095	NM_018192.4(P3H2):c.47_58dup (p.12LLLP[3])	LOC123464484, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1025074	NM_018192.4(P3H2):c.32T>C (p.Leu11Pro)	LOC123464484, P3H2 (L11P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1016346	NM_018192.4(P3H2):c.322C>T (p.Pro108Ser)	LOC129938149, P3H2 (P108S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1013787	NM_018192.4(P3H2):c.4C>T (p.Arg2Trp)	LOC123464484, P3H2 (R2W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1008381	NM_018192.4(P3H2):c.29TGC[3] (p.Leu13_Leu14del)	LOC123464484, P3H2	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 1006207	NM_018192.4(P3H2):c.22C>T (p.Pro8Ser)	LOC123464484, P3H2 (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 964140	NM_018192.4(P3H2):c.33_50dup (p.Leu13_Leu18dup)	LOC123464484, P3H2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 957259	NM_018192.4(P3H2):c.286C>T (p.Pro96Ser)	LOC129938149, P3H2 (P96S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 955446	NM_018192.4(P3H2):c.26C>T (p.Pro9Leu)	LOC123464484, P3H2 (P9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 954439	NM_018192.4(P3H2):c.29TGC[6] (p.Leu14dup)	LOC123464484, P3H2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 936900	NM_018192.4(P3H2):c.36_50dup (p.Leu14_Leu18dup)	P3H2, LOC123464484	Duplication (intron variant +1 more)	not provided	GUncertain significance
Select item 858773	NM_018192.4(P3H2):c.335C>G (p.Ser112Cys)	P3H2, LOC129938149 (S112C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 858316	NM_018192.4(P3H2):c.29TGC[7] (p.Leu13_Leu14dup)	LOC123464484, P3H2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 845024	NM_018192.4(P3H2):c.313G>T (p.Ala105Ser)	LOC129938149, P3H2 (A105S)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 842481	NM_018192.4(P3H2):c.29T>C (p.Leu10Pro)	LOC123464484, P3H2 (L10P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 841671	NM_018192.4(P3H2):c.11G>A (p.Arg4His)	LOC123464484, P3H2 (R4H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 836060	NM_018192.4(P3H2):c.285GCCCCC[3] (p.Pro98_Pro99dup)	LOC129938149, P3H2	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 748506	NM_018192.4(P3H2):c.309C>G (p.Pro103=)	LOC129938149, P3H2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 684939	GRCh37/hg19 3q28(chr3:189748700-189854888)x3	P3H2	Copy number gain	not provided	GUncertain significance
Select item 225632	NM_018192.4(P3H2):c.297del (p.Gly100fs)	LOC129938149, P3H2 (G100fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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Links from Gene

Items: 71