ClinVar for MedGen (Select 903836) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068191	NM_177987.3(TUBB8):c.166G>A (p.Gly56Ser)	TUBB8 (G56S)	Single nucleotide variant (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GUncertain significance
Select item 3068145	NM_177987.3(TUBB8):c.1036C>A (p.Pro346Thr)	TUBB8 (P274T +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GUncertain significance
Select item 1185197	NM_001389618.1(TUBB8):c.-165C>T	TUBB8	Single nucleotide variant (5 prime UTR variant)	Oocyte maturation defect 2	GBenign
Select item 1185196	NM_177987.3(TUBB8):c.-51G>A	TUBB8	Single nucleotide variant (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GBenign
Select item 1185195	NM_177987.3(TUBB8):c.-48T>A	TUBB8	Single nucleotide variant (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GBenign
Select item 1185194	NM_177987.3(TUBB8):c.57+26T>C	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185193	NM_177987.3(TUBB8):c.57+48C>T	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185192	NM_177987.3(TUBB8):c.58-20T>G	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185191	NM_177987.3(TUBB8):c.516G>A (p.Ser172=)	TUBB8	Single nucleotide variant (synonymous variant)	Oocyte maturation defect 2	GBenign
Select item 1185190	NM_177987.3(TUBB8):c.58-18T>C	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185189	NM_177987.3(TUBB8):c.277+10G>A	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185188	NM_177987.3(TUBB8):c.277+129G>A	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185187	NM_177987.3(TUBB8):c.278-82G>A	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185186	NM_177987.3(TUBB8):c.729G>A (p.Pro243=)	TUBB8	Single nucleotide variant (synonymous variant)	Oocyte maturation defect 2	GBenign
Select item 996214	NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser)	TUBB8 (G308S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 977681	NM_177987.3(TUBB8):c.940G>T (p.Ala314Ser)	TUBB8 (A314S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977680	NM_177987.3(TUBB8):c.893A>G (p.Asn298Ser)	TUBB8 (N298S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977679	NM_177987.3(TUBB8):c.1139G>A (p.Arg380His)	TUBB8 (R380H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977678	NM_177987.3(TUBB8):c.10A>C (p.Ile4Leu)	TUBB8 (I4L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977677	NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile)	TUBB8 (V349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977676	NM_177987.3(TUBB8):c.613G>A (p.Glu205Lys)	TUBB8 (E205K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977675	NM_177987.3(TUBB8):c.1130T>C (p.Leu377Pro)	TUBB8 (L377P)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977674	NM_177987.3(TUBB8):c.938C>T (p.Ala313Val)	TUBB8 (A313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977673	NM_177987.3(TUBB8):c.722G>A (p.Arg241His)	TUBB8 (R241H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 977672	NM_177987.3(TUBB8):c.535G>A (p.Val179Met)	TUBB8 (V179M)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977671	NM_177987.3(TUBB8):c.1073C>T (p.Pro358Leu)	TUBB8 (P358L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977670	NM_177987.3(TUBB8):c.1172G>A (p.Arg391His)	TUBB8 (R391H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977669	NM_177987.3(TUBB8):c.292G>A (p.Gly98Arg)	TUBB8 (G98R)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977668	NM_177987.3(TUBB8):c.728C>T (p.Pro243Leu)	TUBB8 (P243L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977667	NM_177987.3(TUBB8):c.1203_1204insCT (p.Gly402fs)	TUBB8 (G402fs)	Insertion (frameshift variant)	Oocyte maturation defect 2	GPathogenic
Select item 977666	NM_177987.3(TUBB8):c.594G>C (p.Glu198Asp)	TUBB8 (E198D)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977665	NM_177987.3(TUBB8):c.544C>T (p.Pro182Ser)	TUBB8 (P182S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977664	NM_177987.3(TUBB8):c.136C>T (p.Arg46Cys)	TUBB8 (R46C)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977663	NM_177987.3(TUBB8):c.629T>A (p.Ile210Lys)	TUBB8 (I210K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977662	NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp)	TUBB8 (A393D)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977661	NM_177987.3(TUBB8):c.1271A>G (p.Gln424Arg)	TUBB8 (Q424R)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977660	NM_177987.3(TUBB8):c.1242C>G (p.Asn414Lys)	TUBB8 (N414K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977659	NM_177987.3(TUBB8):c.550A>G (p.Asn184Asp)	TUBB8 (N184D)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977658	NM_177987.3(TUBB8):c.539T>C (p.Val180Ala)	TUBB8 (V180A)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977657	NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys)	TUBB8 (E123K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977656	NM_177987.3(TUBB8):c.1163T>C (p.Met388Thr)	TUBB8 (M388T)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977655	NM_177987.3(TUBB8):c.1189T>G (p.Trp397Gly)	TUBB8 (W397G)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977654	NM_177987.3(TUBB8):c.422G>C (p.Gly141Ala)	TUBB8 (G141A)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977653	NM_177987.3(TUBB8):c.394G>T (p.Gly132Cys)	TUBB8 (G132C)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 805949	NM_177987.3(TUBB8):c.845G>C (p.Arg282Pro)	TUBB8 (R282P)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GUncertain significance
Select item 684762	NM_177987.3(TUBB8):c.735G>C (p.Gln245His)	TUBB8 (Q245H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 444045	NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)	LOC130056977, PATL2 (R160*)	Single nucleotide variant (nonsense +1 more)	Oocyte maturation defect 2 +1 more	GLikely pathogenic
Select item 378061	NM_177987.3(TUBB8):c.426dup (p.Thr143fs)	TUBB8 (T143fs +1 more)	Duplication (frameshift variant)	Oocyte maturation defect 2	GPathogenic
Select item 378060	NM_177987.3(TUBB8):c.80_100del (p.Glu27_Ala33del)	TUBB8	Deletion (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GPathogenic
Select item 378059	NM_177987.3(TUBB8):c.713C>T (p.Thr238Met)	TUBB8 (T238M +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223146	NM_177987.3(TUBB8):c.900G>A (p.Met300Ile)	TUBB8 (M300I +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223145	NM_177987.3(TUBB8):c.1088T>C (p.Met363Thr)	TUBB8 (M363T +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223144	NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln)	TUBB8 (R262Q +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223143	NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu)	TUBB8 (S176L +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 221270	NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys)	TUBB8 (R2K)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 2	GPathogenic
Select item 221269	NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn)	TUBB8 (D417N +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 221268	NM_177987.3(TUBB8):c.686T>C (p.Val229Ala)	TUBB8 (V229A +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic

ClinVar

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Links from MedGen

Items: 57