9721[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 325891	NM_006907.4(PYCR1):c.*769C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325892	NM_006907.4(PYCR1):c.*746C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 325893	NM_006907.4(PYCR1):c.*699G>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325894	NM_006907.4(PYCR1):c.*622G>A	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325895	NM_006907.4(PYCR1):c.*504G>C	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325896	NM_006907.4(PYCR1):c.*482G>A	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325897	NM_006907.4(PYCR1):c.*477C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 890670	NM_006907.4(PYCR1):c.*440C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 891915	NM_006907.4(PYCR1):c.*352C>G	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 808335	NM_006907.4(PYCR1):c.*307G>T	PYCR1 (Q308H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 325898	NM_006907.4(PYCR1):c.*272G>A	PYCR1 (G297R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa +1 more	GBenign
Select item 891916	NM_006907.4(PYCR1):c.*245T>C	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891917	NM_006907.4(PYCR1):c.*229C>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 325899	NM_006907.4(PYCR1):c.195_196del	PYCR1	Deletion (3 prime UTR variant +1 more)	Cutis laxa, recessive	GUncertain significance
Select item 891918	NM_006907.4(PYCR1):c.*195A>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891919	NM_006907.4(PYCR1):c.*150C>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891920	NM_006907.4(PYCR1):c.*104G>A	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 325900	NM_006907.4(PYCR1):c.*68C>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GBenign
Select item 325901	NM_006907.4(PYCR1):c.*62G>C	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 2103391	NM_006907.4(PYCR1):c.949G>A (p.Gly317Ser)	PYCR1 (G344S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1397759	NM_006907.4(PYCR1):c.948G>A (p.Ala316=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1953388	NM_006907.4(PYCR1):c.947C>T (p.Ala316Val)	PYCR1 (A343V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2289009	NM_006907.4(PYCR1):c.934A>C (p.Ser312Arg)	PYCR1 (S339R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1428755	NM_006907.4(PYCR1):c.932G>A (p.Arg311His)	PYCR1 (R280H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2576941	NM_006907.4(PYCR1):c.931C>T (p.Arg311Cys)	PYCR1 (R280C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1176367	NM_006907.4(PYCR1):c.931C>A (p.Arg311Ser)	PYCR1 (R280S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2068585	NM_006907.4(PYCR1):c.922C>G (p.Leu308Val)	PYCR1 (L277V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2056534	NM_006907.4(PYCR1):c.905C>T (p.Pro302Leu)	PYCR1 (P271L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1398444	NM_006907.4(PYCR1):c.902_903inv (p.Ser301Leu)	PYCR1 (S301L +2 more)	Inversion (missense variant +2 more)	not provided	GUncertain significance
Select item 781337	NM_006907.4(PYCR1):c.903= (p.Ser301=)	PYCR1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 497969	NM_006907.4(PYCR1):c.903A>G (p.Ser301=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 889467	NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu)	PYCR1 (S301L +2 more)	Single nucleotide variant (missense variant +2 more)	Cutis laxa	GUncertain significance
Select item 517940	NM_006907.4(PYCR1):c.900G>A (p.Leu300=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2178967	NM_006907.4(PYCR1):c.895G>A (p.Ala299Thr)	PYCR1 (A326T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 325902	NM_006907.4(PYCR1):c.894C>T (p.Thr298=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	Cutis laxa +2 more	GBenign
Select item 1949324	NM_006907.4(PYCR1):c.892A>T (p.Thr298Ser)	PYCR1 (T325S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2730490	NM_006907.4(PYCR1):c.888A>G (p.Ala296=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1975742	NM_006907.4(PYCR1):c.875T>C (p.Leu292Pro)	PYCR1 (L292P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1458285	NM_006907.4(PYCR1):c.867G>A (p.Lys289=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 800973	NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)	PYCR1 (K289R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1476705	NM_006907.4(PYCR1):c.864C>G (p.Asp288Glu)	PYCR1 (D315E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1995902	NM_006907.4(PYCR1):c.859C>A (p.Leu287Met)	PYCR1 (L314M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305214	NM_006907.4(PYCR1):c.857T>C (p.Ile286Thr)	PYCR1 (I255T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982738	NM_006907.4(PYCR1):c.840C>T (p.Ala280=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1498944	NM_006907.4(PYCR1):c.820C>T (p.Gln274Ter)	PYCR1 (Q243* +2 more)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GUncertain significance
Select item 2807044	NM_006907.4(PYCR1):c.810C>T (p.Ser270=)	PYCR1 (H216Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 432978	NM_006907.4(PYCR1):c.802C>T (p.Leu268=)	PYCR1 (A213V)	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2613235	NM_006907.4(PYCR1):c.798G>A (p.Arg266=)	PYCR1 (G212R)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 392367	NM_006907.4(PYCR1):c.798-1G>A	PYCR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 889468	NM_006907.4(PYCR1):c.798-4C>T	PYCR1	Single nucleotide variant (intron variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 390572	NM_006907.4(PYCR1):c.798-6C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962598	NM_006907.4(PYCR1):c.798-10G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866004	NM_006907.4(PYCR1):c.798-13C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981706	NM_006907.4(PYCR1):c.798-20A>G	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678636	NM_006907.4(PYCR1):c.797+140C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661222	NM_006907.4(PYCR1):c.797+20G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628943	NM_006907.4(PYCR1):c.797+19C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991414	NM_006907.4(PYCR1):c.797+12C>G	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909551	NM_006907.4(PYCR1):c.797+12C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1910049	NM_006907.4(PYCR1):c.797+11G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782029	NM_006907.4(PYCR1):c.797+10del	PYCR1	Deletion (intron variant)	not provided	GBenign
Select item 1529805	NM_006907.4(PYCR1):c.797+10C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012749	NM_006907.4(PYCR1):c.797+9C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1406395	NM_006907.4(PYCR1):c.797+6C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 13194	NM_006907.4(PYCR1):c.797+2_797+5del	PYCR1	Deletion (splice donor variant +1 more)	Autosomal recessive cutis laxa type 2B	GPathogenic
Select item 1335300	NM_006907.4(PYCR1):c.797+2T>C	PYCR1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13190	NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)	PYCR1 (R266Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive cutis laxa type 2B +3 more	GPathogenic
Select item 1441203	NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys)	PYCR1 (R291C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1946727	NM_006907.4(PYCR1):c.788T>C (p.Ile263Thr)	PYCR1 (I263T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426415	NM_006907.4(PYCR1):c.785G>A (p.Cys262Tyr)	PYCR1 (C262Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723259	NM_006907.4(PYCR1):c.778G>C (p.Ala260Pro)	PYCR1 (A229P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 996639	NM_006907.4(PYCR1):c.772G>C (p.Val258Leu)	PYCR1 (V227L +2 more)	Single nucleotide variant (missense variant +1 more)	Wiedemann-Rautenstrauch-like progeroid syndrome	GLikely pathogenic
Select item 2572397	NM_006907.4(PYCR1):c.770C>T (p.Ala257Val)	PYCR1 (A226V +2 more)	Single nucleotide variant (missense variant +1 more)	PYCR1-related de Barsy syndrome	GUncertain significance
Select item 29863	NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)	PYCR1 (A257T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 325903	NM_006907.4(PYCR1):c.768C>T (p.Asn256=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 976724	NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)	PYCR1 (S221F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2118144	NM_006907.4(PYCR1):c.752G>T (p.Arg251Leu)	PYCR1 (R278L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 13198	NM_006907.4(PYCR1):c.752G>A (p.Arg251His)	PYCR1 (R251H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 986091	NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)	PYCR1 (R220C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2795734	NM_006907.4(PYCR1):c.749T>C (p.Phe250Ser)	PYCR1 (F277S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 29865	NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu)	PYCR1 (G248E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1302647	NM_006907.4(PYCR1):c.731T>C (p.Val244Ala)	PYCR1 (V213A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935480	NM_006907.4(PYCR1):c.729T>C (p.His243=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 996065	NM_006907.4(PYCR1):c.728A>G (p.His243Arg)	PYCR1 (H212R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive cutis laxa type 2B	GPathogenic
Select item 1524275	NM_006907.4(PYCR1):c.722C>A (p.Ala241Asp)	PYCR1 (A268D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 694719	NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)	PYCR1 (A210V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive cutis laxa type 2B	GPathogenic
Select item 2160967	NM_006907.4(PYCR1):c.719A>G (p.His240Arg)	PYCR1 (H209R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 889469	NM_006907.4(PYCR1):c.717C>T (p.Ile239=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 3005517	NM_006907.4(PYCR1):c.705T>C (p.Gly235=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068527	NM_006907.4(PYCR1):c.701C>T (p.Pro234Leu)	PYCR1 (P234L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327808	NM_006907.4(PYCR1):c.691G>A (p.Val231Ile)	PYCR1 (V200I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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