91147[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 673868	NM_153704.5(TMEM67):c.-297C>G	TMEM67	Single nucleotide variant	not provided	GLikely benign
Select item 1296514	NC_000008.11:g.93754619T>G	TMEM67	Single nucleotide variant	not provided	GBenign
Select item 363915	NM_001142301.1(TMEM67):c.-207del	TMEM67	Deletion (5 prime UTR variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 515914	NM_001142301.1(TMEM67):c.-207G>A	TMEM67	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 262740	NM_001142301.1(TMEM67):c.-200G>C	TMEM67	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 3 +4 more	GBenign
Select item 510630	NM_153704.6(TMEM67):c.-4T>G	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2503865	NM_153704.6(TMEM67):c.-1C>T	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1403538	NM_153704.6(TMEM67):c.1A>G (p.Met1Val)	TMEM67 (M1V)	Single nucleotide variant (missense variant +3 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 591145	NM_153704.6(TMEM67):c.3G>T (p.Met1Ile)	TMEM67 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1350345	NM_153704.6(TMEM67):c.5C>T (p.Ala2Val)	TMEM67 (A2V)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1391597	NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)	TMEM67 (T3M)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 3 +7 more	GUncertain significance
Select item 1547028	NM_153704.6(TMEM67):c.9G>A (p.Thr3=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2417407	NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)	TMEM67 (G5C)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2928687	NM_153704.6(TMEM67):c.15T>G (p.Gly5=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1545390	NM_153704.6(TMEM67):c.18G>C (p.Gly6=)	TMEM67	Single nucleotide variant (non-coding transcript variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 193507	NM_153704.6(TMEM67):c.25G>A (p.Val9Met)	TMEM67 (V9M)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +11 more	GConflicting classifications of pathogenicity
Select item 1396850	NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr)	TMEM67 (A10T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 363916	NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)	TMEM67 (A10V)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1050591	NM_153704.6(TMEM67):c.31A>G (p.Met11Val)	TMEM67 (M11V)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 3 +8 more	GUncertain significance
Select item 1425374	NM_153704.6(TMEM67):c.32T>A (p.Met11Lys)	TMEM67 (M11K)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2943185	NM_153704.6(TMEM67):c.36G>C (p.Ala12=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1649658	NM_153704.6(TMEM67):c.36G>A (p.Ala12=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1539494	NM_153704.6(TMEM67):c.37G>A (p.Val13Ile)	TMEM67 (V13I)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 2950852	NM_153704.6(TMEM67):c.39T>G (p.Val13=)	TMEM67	Single nucleotide variant (non-coding transcript variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1434635	NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys)	TMEM67 (W14C)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 928828	NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)	TMEM67 (S15T)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 2081986	NM_153704.6(TMEM67):c.45C>T (p.Ser15=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1376259	NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe)	TMEM67 (L16F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2928902	NM_153704.6(TMEM67):c.48C>T (p.Leu16=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 596873	NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)	TMEM67 (L17*)	Single nucleotide variant (nonsense +2 more)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 1391815	NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser)	TMEM67 (A19S)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1927645	NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)	TMEM67 (A19D)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1546387	NM_153704.6(TMEM67):c.57C>A (p.Ala19=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2658688	NM_153704.6(TMEM67):c.63C>T (p.Ala21=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1519279	NM_153704.6(TMEM67):c.64G>A (p.Val22Met)	TMEM67 (V22M)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2922833	NM_153704.6(TMEM67):c.66G>A (p.Val22=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1957610	NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)	TMEM67 (T23S)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1409131	NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala)	TMEM67 (T23A)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2942932	NM_153704.6(TMEM67):c.69C>G (p.Thr23=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1587955	NM_153704.6(TMEM67):c.69C>T (p.Thr23=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2000209	NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)	TMEM67 (A24V)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1403148	NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)	TMEM67 (F25L)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1 +7 more	GUncertain significance
Select item 363917	NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro)	TMEM67 (L26P)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 1592263	NM_153704.6(TMEM67):c.79C>T (p.Leu27=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 859620	NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)	TMEM67 (F29L)	Single nucleotide variant (intron variant +2 more)	RHYNS syndrome +7 more	GUncertain significance
Select item 1416073	NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)	TMEM67 (L30F)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1 +9 more	GUncertain significance
Select item 2634473	NM_153704.6(TMEM67):c.91C>T (p.Pro31Ser)	TMEM67 (P31S)	Single nucleotide variant (missense variant +2 more)	TMEM67-related disorder	GUncertain significance
Select item 2157507	NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)	TMEM67 (P31L)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2131767	NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)	TMEM67 (R32S)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2951584	NM_153704.6(TMEM67):c.99C>T (p.Phe33=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 287192	NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)	TMEM67 (A36V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1611858	NM_153704.6(TMEM67):c.108C>G (p.Ala36=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2445933	NM_153704.6(TMEM67):c.114del (p.Phe39fs)	TMEM67 (F39fs)	Deletion (5 prime UTR variant +2 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2935126	NM_153704.6(TMEM67):c.114C>T (p.Thr38=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 363918	NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)	TMEM67	Microsatellite (non-coding transcript variant +2 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 262741	NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1409306	NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu)	TMEM67 (F41L)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1956073	NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)	TMEM67 (P42A)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1386	NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)	TMEM67 (Q44*)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1039817	NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)	TMEM67 (P46Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 363919	NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)	TMEM67 (P46L)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 6 +4 more	GUncertain significance
Select item 3179614	NM_153704.6(TMEM67):c.139G>A (p.Glu47Lys)	TMEM67 (E47K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2119103	NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)	TMEM67 (C49S)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2176595	NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)	TMEM67 (D50Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1510758	NM_153704.6(TMEM67):c.148G>C (p.Asp50His)	TMEM67 (D50H)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1490743	NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn)	TMEM67 (D50N)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2177861	NM_153704.6(TMEM67):c.151AAC[1] (p.Asn52del)	TMEM67 (N52del)	Microsatellite (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1510289	NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)	TMEM67 (D50E)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 11 +7 more	GUncertain significance
Select item 1426892	NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser)	TMEM67 (N51S)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2035982	NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)	TMEM67 (Q53*)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 1998351	NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)	TMEM67 (Q53R)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2953713	NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs)	TMEM67 (Y54fs)	Deletion (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2926482	NM_153704.6(TMEM67):c.159G>A (p.Gln53=)	TMEM67	Single nucleotide variant (non-coding transcript variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2069407	NM_153704.6(TMEM67):c.159G>C (p.Gln53His)	TMEM67 (Q53H)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 56769	NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys)	TMEM67 (Y54C)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 1305631	NM_153704.6(TMEM67):c.166G>T (p.Asp56Tyr)	TMEM67 (D56Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1968666	NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)	TMEM67 (D56V)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1374112	NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly)	TMEM67 (D56G)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1484767	NM_153704.6(TMEM67):c.169A>G (p.Ile57Val)	TMEM67 (I57V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1968888	NM_153704.6(TMEM67):c.174C>T (p.Ser58=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 3179615	NM_153704.6(TMEM67):c.176C>T (p.Ala59Val)	TMEM67 (A59V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2948500	NM_153704.6(TMEM67):c.177C>A (p.Ala59=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign

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