ClinVar for MedGen (Select 347699) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065632	NM_013296.5(GPSM2):c.11A>T (p.Asn4Ile)	GPSM2 (N4I)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GLikely benign
Select item 2690987	NM_013296.5(GPSM2):c.1600+3A>C	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 2674617	NM_013296.5(GPSM2):c.681+1G>A	GPSM2	Single nucleotide variant (splice donor variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 2432254	NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs)	CLCC1, GPSM2 (R647fs)	Microsatellite (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 1431275	NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys)	GPSM2 (E120K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333261	NM_013296.5(GPSM2):c.1264-1G>T	GPSM2	Single nucleotide variant (splice acceptor variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 1324511	NM_013296.5(GPSM2):c.1473_1474delinsAACC (p.Phe492fs)	GPSM2 (F492fs)	Indel (frameshift variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 1324510	NM_013296.5(GPSM2):c.1601-2A>G	GPSM2	Single nucleotide variant (splice acceptor variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 1299315	NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter)	GPSM2 (R278*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 1195161	NM_013296.5(GPSM2):c.1208T>C (p.Leu403Ser)	GPSM2 (L403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1064650	NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer)	GPSM2	Indel (nonsense)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 876503	NM_013296.5(GPSM2):c.-453C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 875593	NM_001377458.1(CLCC1):c.*2133A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 875592	NM_001377458.1(CLCC1):c.*2248A>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GLikely benign
Select item 875533	NM_013296.5(GPSM2):c.953+12G>A	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 875532	NM_013296.5(GPSM2):c.807A>G (p.Leu269=)	GPSM2	Single nucleotide variant (synonymous variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 875531	NM_013296.5(GPSM2):c.597G>A (p.Ala199=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874650	NM_001377458.1(CLCC1):c.*2256G>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 874649	NM_001377458.1(CLCC1):c.*2399T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 874609	NM_013296.5(GPSM2):c.279-6T>C	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 874608	NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr)	GPSM2 (A92T)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 873668	NM_001377458.1(CLCC1):c.*2856T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 873667	NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn)	GPSM2 (S565N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 873666	NM_013296.5(GPSM2):c.1665G>C (p.Gln555His)	GPSM2 (Q555H)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 873665	NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)	GPSM2 (G491A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 873608	NM_013296.5(GPSM2):c.-288C>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 873607	NM_013296.5(GPSM2):c.-316C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 864860	NM_013296.5(GPSM2):c.1501del (p.Ser501fs)	GPSM2 (S501fs)	Deletion (frameshift variant)	Chudley-McCullough syndrome	GPathogenic/Likely pathogenic
Select item 730883	NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln)	GPSM2 (R278Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 681784	NM_013296.5(GPSM2):c.1815+22G>A	GPSM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 632077	NM_013296.5(GPSM2):c.-248-1G>A	GPSM2	Single nucleotide variant (splice acceptor variant +1 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 618146	NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg)	GPSM2 (G160R)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 587568	NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr)	GPSM2 (A42T)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 523009	NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs)	GPSM2 (C516fs)	Deletion (frameshift variant)	Chudley-McCullough syndrome	GPathogenic
Select item 517193	NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del)	GPSM2 (T523del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 506755	NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp)	GPSM2 (R406W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 505415	NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly)	GPSM2 (A345G)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 504591	NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)	GPSM2 (R498*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 402258	NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)	GPSM2 (W326*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 386577	NM_001377458.1(CLCC1):c.*2600A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +1 more)	GPSM2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 291717	NM_001377458.1(CLCC1):c.*2139A>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291716	NM_001377458.1(CLCC1):c.*2140C>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291714	NM_001377458.1(CLCC1):c.*2152G>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GBenign
Select item 291713	NM_001377458.1(CLCC1):c.*2285A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291712	NM_001377458.1(CLCC1):c.*2356A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 291711	NM_001377458.1(CLCC1):c.*2396C>T	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 291710	NM_013296.5(GPSM2):c.2040A>G (p.Lys680=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291709	NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln)	CLCC1, GPSM2 (R637Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 291708	NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn)	GPSM2 (I600N)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 291707	NM_013296.5(GPSM2):c.1473del (p.Phe492fs)	GPSM2 (F492fs)	Deletion (frameshift variant)	Rare genetic deafness +2 more	GPathogenic
Select item 291706	NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg)	GPSM2 (K453R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 291705	NM_013296.5(GPSM2):c.1356G>A (p.Gly452=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291704	NM_013296.5(GPSM2):c.1263+11G>A	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome +1 more	GConflicting classifications of pathogenicity
Select item 291703	NM_013296.5(GPSM2):c.1244T>C (p.Met415Thr)	GPSM2 (M415T)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 291701	NM_013296.5(GPSM2):c.683G>A (p.Arg228His)	GPSM2 (R228H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291700	NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys)	GPSM2 (R93K)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291699	NM_013296.5(GPSM2):c.-245T>A	GPSM2	Single nucleotide variant (5 prime UTR variant +1 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291698	NM_013296.5(GPSM2):c.-258C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 291697	NM_013296.5(GPSM2):c.-306C>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291696	NM_013296.5(GPSM2):c.-357C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291695	NM_013296.5(GPSM2):c.-369G>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291694	NM_013296.5(GPSM2):c.-397C>G	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291693	NM_013296.5(GPSM2):c.-426G>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291692	NM_013296.5(GPSM2):c.-429C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GLikely benign
Select item 291691	NM_013296.5(GPSM2):c.-441G>C	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291690	NM_013296.5(GPSM2):c.-469C>G	LOC129931083, GPSM2	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291689	NM_013296.5(GPSM2):c.-486G>C	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 226649	NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)	GPSM2 (S525del)	Microsatellite (inframe_deletion)	Nonsyndromic Hearing Loss, Recessive +3 more	GBenign/Likely benign
Select item 211100	NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)	CLCC1, GPSM2 (R637W)	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 179453	NM_013296.5(GPSM2):c.186C>T (p.Ser62=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178376	NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)	GPSM2 (S580L)	Single nucleotide variant (missense variant)	GPSM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 163641	NM_001377458.1(CLCC1):c.*2854T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 45572	NM_013296.5(GPSM2):c.87G>A (p.Leu29=)	GPSM2	Single nucleotide variant (synonymous variant)	Chudley-McCullough syndrome +2 more	GBenign/Likely benign
Select item 45571	NM_013296.5(GPSM2):c.828A>G (p.Lys276=)	GPSM2	Single nucleotide variant (synonymous variant)	Chudley-McCullough syndrome +2 more	GBenign/Likely benign
Select item 45570	NM_013296.5(GPSM2):c.753A>G (p.Ala251=)	GPSM2	Single nucleotide variant (synonymous variant)	Chudley-McCullough syndrome +2 more	GBenign/Likely benign
Select item 45569	NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr)	GPSM2 (A177T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 45568	NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln)	GPSM2 (R127Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 45567	NM_013296.5(GPSM2):c.278+5T>C	GPSM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 45566	NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45564	NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met)	GPSM2 (T457M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 45563	NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)	GPSM2 (G356R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35494	NM_013296.5(GPSM2):c.1062+1G>T	GPSM2	Single nucleotide variant (splice donor variant)	not specified +2 more	GPathogenic
Select item 35493	NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	GPSM2 (S554*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 35492	NM_013296.5(GPSM2):c.742del (p.Gly249fs)	GPSM2 (G249fs)	Deletion (frameshift variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 30781	NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter)	GPSM2 (Q562*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 1823	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)	GPSM2 (R127*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic

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Items: 86