ClinVar for MedGen (Select 52619) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 894636	NM_203486.3(DLL3):c.1759-97G>T	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GUncertain significance
Select item 894613	NM_203486.3(DLL3):c.1302C>T (p.Ala434=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 894612	NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg)	DLL3 (G397R)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 894587	NM_203486.3(DLL3):c.933G>A (p.Val311=)	DLL3	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 894586	NM_203486.3(DLL3):c.902C>T (p.Pro301Leu)	DLL3 (P301L)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 894585	NM_203486.3(DLL3):c.870+3C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +1 more	GUncertain significance
Select item 894550	NM_203486.3(DLL3):c.583A>G (p.Ser195Gly)	DLL3, LOC130064417 (S195G)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GUncertain significance
Select item 894549	NM_203486.3(DLL3):c.564G>T (p.Thr188=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 894238	NM_203486.3(DLL3):c.1674-9C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 894207	NM_203486.3(DLL3):c.1140C>G (p.Arg380=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894206	NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys)	DLL3 (R380C)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 894205	NM_203486.3(DLL3):c.1123C>G (p.Leu375Val)	DLL3 (L375V)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 894146	NM_203486.3(DLL3):c.478C>T (p.Arg160Trp)	DLL3, LOC130064417 (R160W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GUncertain significance
Select item 893402	NM_203486.3(DLL3):c.1474C>G (p.Leu492Val)	DLL3 (L492V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893401	NM_203486.3(DLL3):c.1455C>T (p.Pro485=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 893400	NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala)	DLL3 (P481A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893379	NM_203486.3(DLL3):c.1101C>T (p.Leu367=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 893343	NM_203486.3(DLL3):c.654G>A (p.Leu218=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 893342	NM_203486.3(DLL3):c.652+15C>T	DLL3, LOC130064417	Single nucleotide variant (intron variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 893301	NM_203486.3(DLL3):c.367A>G (p.Ile123Val)	DLL3 (I123V)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 893300	NM_203486.3(DLL3):c.343G>A (p.Ala115Thr)	DLL3 (A115T)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 893125	NM_203486.3(DLL3):c.615C>T (p.Arg205=)	LOC130064417, DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 893094	NM_203486.3(DLL3):c.100A>T (p.Ile34Phe)	DLL3 (I34F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 892624	NM_203486.3(DLL3):c.*38A>G	DLL3	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GLikely benign
Select item 892623	NM_203486.3(DLL3):c.1759-31C>G	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Syndactyly +1 more	GUncertain significance
Select item 892590	NM_203486.3(DLL3):c.1378A>G (p.Met460Val)	DLL3 (M460V)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 892589	NM_203486.3(DLL3):c.1362T>C (p.Ala454=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 892564	NM_203486.3(DLL3):c.984C>T (p.Val328=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 892563	NM_203486.3(DLL3):c.969C>T (p.Asn323=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811612	NM_203486.3(DLL3):c.352-15C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 786670	NM_203486.3(DLL3):c.160C>A (p.Leu54Ile)	DLL3 (L54I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 764837	NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu)	DLL3 (R463L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 737861	NM_203486.3(DLL3):c.1123C>T (p.Leu375=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 711080	NM_203486.3(DLL3):c.1623G>A (p.Pro541=)	DLL3, LOC130064419	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 638149	NM_152558.5(IQCE):c.895_904del (p.Val301fs)	IQCE (V285fs +2 more)	Deletion (frameshift variant)	Polydactyly, postaxial, type a7 +4 more	GPathogenic
Select item 593380	NM_203486.3(DLL3):c.63C>T (p.Leu21=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GBenign/Likely benign
Select item 520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B (D32N)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome +4 more	GConflicting classifications of pathogenicity
Select item 515510	NM_203486.3(DLL3):c.1758+57C>T	DLL3	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 501672	NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)	DLL3, LOC130064417 (P206A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 499140	NM_203486.3(DLL3):c.982G>T (p.Val328Phe)	DLL3 (V328F)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 497714	NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser)	DLL3 (N364S)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 449192	NM_203486.3(DLL3):c.805G>A (p.Gly269Arg)	DLL3 (G269R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 380469	NM_203486.3(DLL3):c.674G>A (p.Ser225Asn)	DLL3 (S225N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 374019	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13 (R274*)	Single nucleotide variant (nonsense)	Synpolydactyly +13 more	GPathogenic/Likely pathogenic
Select item 369513	NM_000165.5(GJA1):c.*1733C>T	GJA1	Single nucleotide variant	Syndactyly +2 more	GBenign
Select item 355182	NM_000165.5(GJA1):c.1018_1021del	GJA1	Deletion (3 prime UTR variant)	Oculodentodigital dysplasia +2 more	GLikely benign
Select item 355181	NM_000165.5(GJA1):c.1020_1021del	GJA1	Deletion (3 prime UTR variant)	Syndactyly +2 more	GUncertain significance
Select item 355179	NM_000165.5(GJA1):c.916_918del	GJA1	Deletion (3 prime UTR variant)	Syndactyly +2 more	GUncertain significance
Select item 355178	NM_000165.5(GJA1):c.*773del	GJA1	Deletion (3 prime UTR variant)	Syndactyly +2 more	GUncertain significance
Select item 355177	NM_000165.5(GJA1):c.772_773dup	GJA1	Duplication (3 prime UTR variant)	Syndactyly +2 more	GLikely benign
Select item 355176	NM_000165.5(GJA1):c.*773dup	GJA1	Duplication (3 prime UTR variant)	Syndactyly +2 more	GBenign
Select item 329242	NM_203486.3(DLL3):c.1759-53A>G	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Syndactyly +1 more	GUncertain significance
Select item 329241	NM_203486.3(DLL3):c.1759-162A>G	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Syndactyly +1 more	GUncertain significance
Select item 329240	NM_203486.3(DLL3):c.1758+20C>G	DLL3 (P593R)	Single nucleotide variant (missense variant +1 more)	Syndactyly +2 more	GUncertain significance
Select item 329239	NM_203486.3(DLL3):c.1383A>C (p.Gly461=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 329238	NM_203486.3(DLL3):c.1356C>T (p.Val452=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 329237	NM_203486.3(DLL3):c.1143C>T (p.Ala381=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GBenign
Select item 329236	NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg)	DLL3 (G344R)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 329235	NM_203486.3(DLL3):c.939G>A (p.Gly313=)	DLL3	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 329234	NM_203486.3(DLL3):c.779C>A (p.Pro260His)	DLL3 (P260H)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 329233	NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr)	DLL3, LOC130064417 (C207Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 329232	NM_203486.3(DLL3):c.618C>T (p.Pro206=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 329231	NM_203486.3(DLL3):c.452G>A (p.Arg151His)	DLL3, LOC130064417 (R151H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 329230	NM_203486.3(DLL3):c.-12dup	DLL3	Duplication (5 prime UTR variant)	Spondylocostal dysostosis +1 more	GUncertain significance
Select item 289692	NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp)	DLL3 (R356W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286841	NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	DLL3 (P226R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 285283	NM_203486.3(DLL3):c.390G>A (p.Glu130=)	DLL3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Male infertility +14 more	GUncertain significance
Select item 260780	NM_203486.3(DLL3):c.546C>G (p.Ala182=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260777	NM_203486.3(DLL3):c.1674-10C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +3 more	GBenign/Likely benign
Select item 260776	NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe)	DLL3, LOC130064419 (S521F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 260775	NM_203486.3(DLL3):c.153C>T (p.Ser51=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GConflicting classifications of pathogenicity
Select item 260772	NM_203486.3(DLL3):c.1029C>T (p.Pro343=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GBenign
Select item 255409	NM_000165.5(GJA1):c.*3dup	GJA1	Duplication (3 prime UTR variant)	not specified +5 more	GBenign
Select item 41379	NM_203486.3(DLL3):c.653T>C (p.Leu218Pro)	DLL3 (L218P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 41378	NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)	DLL3, LOC130064417 +1 more (F172C)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 41377	NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)	DLL3, LOC130064417 (L142Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 30261	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	TULP1 (R400W +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +4 more	GPathogenic

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Items: 79