1267[geneid] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 834075	NM_033133.5(CNP):c.-77C>T	CNP, LOC130060859	Single nucleotide variant (5 prime UTR variant)	Myopia 2, autosomal dominant	GPathogenic
Select item 834079	NM_033133.5(CNP):c.-67C>T	CNP, LOC130060859	Single nucleotide variant (5 prime UTR variant)	Myopia 2, autosomal dominant	GPathogenic
Select item 3146643	NM_033133.5(CNP):c.25A>G (p.Ser9Gly)	CNP (S9G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 834077	NM_033133.5(CNP):c.59A>G (p.Lys20Arg)	CNP (K20R)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopia 2, autosomal dominant	GPathogenic
Select item 693983	NM_033133.5(CNP):c.59A>C (p.Lys20Thr)	CNP (K20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopia 2, autosomal dominant	GPathogenic
Select item 983536	NM_033133.5(CNP):c.245C>T (p.Ser82Leu)	CNP (S82L +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 20	GPathogenic
Select item 2320620	NM_033133.5(CNP):c.274G>A (p.Ala92Thr)	CNP (A72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267474	NM_033133.5(CNP):c.278G>A (p.Arg93Gln)	CNP (R73Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647778	NM_033133.5(CNP):c.378C>T (p.His126=)	CNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578787	NM_033133.5(CNP):c.393G>A (p.Leu131=)	CNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3051467	NM_033133.5(CNP):c.561G>A (p.Pro187=)	CNP	Single nucleotide variant (synonymous variant)	CNP-related disorder	GLikely benign
Select item 3268237	NM_033133.5(CNP):c.648C>A (p.His216Gln)	CNP (H196Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268236	NM_033133.5(CNP):c.691G>A (p.Glu231Lys)	CNP (E231K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647779	NM_033133.5(CNP):c.705G>C (p.Lys235Asn)	CNP (K215N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2312494	NM_033133.5(CNP):c.801G>T (p.Glu267Asp)	CNP (E247D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3257701	NM_033133.5(CNP):c.834C>T (p.Tyr278=)	CNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878567	NM_033133.5(CNP):c.842C>T (p.Ala281Val)	CNP (A261V +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 20	GUncertain significance
Select item 2517708	NM_033133.5(CNP):c.848C>T (p.Thr283Met)	CNP (T283M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540725	NM_033133.5(CNP):c.865C>T (p.Leu289Phe)	CNP (L269F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268238	NM_033133.5(CNP):c.907A>C (p.Ser303Arg)	CNP (S283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268234	NM_033133.5(CNP):c.908G>A (p.Ser303Asn)	CNP (S303N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620826	NM_033133.5(CNP):c.910G>C (p.Glu304Gln)	CNP (E284Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220054	NM_033133.5(CNP):c.910G>A (p.Glu304Lys)	CNP (E284K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1878568	NM_033133.5(CNP):c.918_921delinsCCTA (p.Gln306His)	CNP (Q286H +1 more)	Indel (missense variant)	Leukodystrophy, hypomyelinating, 20	GUncertain significance
Select item 2246979	NM_033133.5(CNP):c.930G>T (p.Trp310Cys)	CNP (W290C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464428	NM_033133.5(CNP):c.932C>T (p.Pro311Leu)	CNP (P291L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834078	NM_033133.5(CNP):c.1015G>A (p.Val339Ile)	CNP (V339I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834076	NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)	CNP (G325D +1 more)	Single nucleotide variant (missense variant)	Myopia 2, autosomal dominant	GPathogenic
Select item 689708	NM_033133.5(CNP):c.1057C>T (p.Arg353Trp)	CNP (R333W +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +1 more	GUncertain significance
Select item 2272907	NM_033133.5(CNP):c.1079G>A (p.Arg360Gln)	CNP (R340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717512	NM_033133.5(CNP):c.1095C>T (p.Gly365=)	CNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2235661	NM_033133.5(CNP):c.1097A>C (p.Glu366Ala)	CNP (E346A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146642	NM_033133.5(CNP):c.1105C>T (p.Arg369Trp)	CNP (R349W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216629	NM_033133.5(CNP):c.1127G>C (p.Gly376Ala)	CNP (G376A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598265	NM_033133.5(CNP):c.1135C>T (p.Arg379Cys)	CNP (R359C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210812	NM_033133.5(CNP):c.1217C>T (p.Thr406Met)	CNP (T386M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241392	NM_033133.5(CNP):c.1219C>G (p.Gln407Glu)	CNP (Q387E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288309	NM_003315.4(DNAJC7):c.1459G>C (p.Gly487Arg)	CNP, DNAJC7 (G487R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1233739	NM_003315.4(DNAJC7):c.1447+37A>C	CNP, DNAJC7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3084605	NM_003315.4(DNAJC7):c.1423G>A (p.Gly475Ser)	CNP, DNAJC7 (G419S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 47